Molecular Tests

1 2 3 4 5 6 9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

1 

10p13-p14 Deletion Syndrome Test
11-Beta-Hydroxyesteroid Dehydrogenase Deficiency, Sequencing HSD11B2 Gene
11-Beta-Hydroxylase Gene (CYP11B1) Mutations
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
15q11-q13 Parent of Origin Methylation Analysis
15q13.3 Microdeletion Test
15q24 Microdeletion Syndrome Test
16p11.2 Microdeletion Test
17-Alpha-Hydroxylase Deficiency
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
17-beta Hydroxysteroid Dehydrogenase III Deficiency
17-beta Hydroxysteroid Dehydrogenase III Deficiency (HSD17B3) Test
17-beta Hydroxysteroid Dehydrogenase III Deficiency Test
17-beta hydroxysteroid dehydrogenase X deficiency
17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency (HSD17B10)
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency Test
17-beta-hydroxysteroid dehydrogenase X deficiency: Full gene sequencing (Rapid testing)
17-hydroxylation activity deficiency
180K Oligo Array
1p36 Deletion Syndrome
1p36 Deletion Syndrome Test
1q21.1 Deletion Test
1q21.1 Deletion/Duplication Analysis
 

2 

2-aminoadipic 2-oxoadipic aciduria
2-Hydroxyglutaric Aciduria, Sequencing D2HGDH Gene
2-methylbutyryl-CoA Dehydrogenase Deficiency: Full gene sequencing (Rapid testing)
2-methylbutyrylglycinuria
21-hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
21-hydroxylase deficiency (sequence analysis of CYP21A2 gene)
21-Hydroxylase Gene (CYP21A2), Full Gene Analysis
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia
21-Hydroxylase-Deficient Congenital Nonclassical Adrenal Hyperplasia
21-hydroxylse-deficient Congential adrenal hyperplasia test
22q11 Deletion Syndrome
22q11 deletion- Del/Dup analysis
22q11.2 Deletion Syndrome (DiGeorge Syndrome, VCFS, Shprintzen syndrome, CTAF)
22q11.2 Deletion Syndrome Test
22q11.2 Deletion/Duplication Analysis
22q11.2 Duplication Test
2p16.1-p15 Deletion Syndrome Test
2q23.1 Microdeletion Syndrome and Autism Spectrum Disorder via the MBD5 Gene
2q37 Microdeletion Syndrome Test
 

3 

3 Ashkenazi BRCA1 and BRCA2 mutations
3-Beta-Hydroxysteroid Dehydrogenase Deficiency , Sequencing HSD3B2 Gene
3-beta-hydroxysteroid dehydrogenase deficiency type 2
3-beta-hydroxysteroid dehydrogenase deficiency type II (sequence analysis of HSD3B2 gene)
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia Test
3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Deletion/Duplication
3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Sequencing
3-Hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency Test
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
3-Hydroxy-3-Methylglutaryl-CoA-Lyase Deficiency (HMGCL)
3-Hydroxy-3-Methylglutaryl-CoA-Synthase-2 Deficiency (HMGCS2)
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (sequence analysis of HMGCL gene)
3-Hydroxyacyl-CoA Dehydrogenase Deficiency via the HADH Gene
3-hydroxyacyl-CoA dehydrogenase deficiency: Full gene sequencing (Rapid testing)
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency Test
3-hydroxyisobutryl-CoA hydrolase deficiency
3-M syndrome (sequence analysis of CUL7 gene)
3-M Syndrome / Primordial Dwarfism Panel
3-M syndrome 2 (sequence analysis of OBSL1 gene)
3-M Syndrome via the CCDC8 Gene
3-M Syndrome via the CUL7 Gene
3-Methylcrotonyl, CoA Carboxylase Deficiency NGS Panel
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Deletion/Duplication
3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency: MCCC1/MCCC2 Gene Sequencing
3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D): Full gene sequencing (Rapid testing)
3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCC2D): Full gene sequencing (Rapid testing)
3-Methylcrotonyl-CoA Carboxylase Alpha Deficiency, Sequencing MCCC1 Gene
3-Methylcrotonyl-CoA Carboxylase Beta Deficiency, Sequencing MCCC2 Gene
3-Methylcrotonyl-CoA carboxylase deficiency (sequence analysis of MCCC1 gene)
3-Methylcrotonyl-CoA Carboxylase Deficiency Deletion/Duplication Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency NGS Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
3-Methylcrotonyl-CoA Carboxylase Deficiency Sequencing Panel
3-Methylcrotonyl-CoA carboxylase deficiency type 2 (sequence analysis of MCCC2 gene)
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC1 Gene
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 Gene
3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 (MCCA) Related
3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC1 and MCCC2 genes sequence analysis
3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCC2 (MCCB) Related
3-Methylcrotonyl-coA Carboxylase Deficiency: MCCC2 gene sequence analysis
3-methylglutaconic aciduria type 1
3-Methylglutaconic Aciduria Type 1 Test
3-Methylglutaconic Aciduria Type 2 (TAZ gene analysis)
3-Methylglutaconic Aciduria Type 2 Test
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-Methylglutaconic Aciduria Type 5 Test
3-methylglutaconic aciduria type I (MCGA1): Full gene sequencing (Rapid testing)
3-methylglutaconic aciduria type I (sequence analysis of AUH gene)
3-Methylglutaconic Aciduria Type I via the AUH Gene
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria, type III: Full gene sequencing (Rapid testing)
3-methylglutaconic aciduria, type V: Full gene sequencing (Rapid testing)
3-Methylglutaconic Aciduria: Type 3
3-Phosphoglycerate Dehydrogenase Deficiency
3M Syndrome Type 1 , Sequencing CUL7 Gene
3M Syndrome Type 2, Sequencing OBSL1 Gene
3M Syndrome, Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes
3MC syndrome type 1
3MC Syndrome Type 1, Sequencing MASP1 Gene
3MC syndrome type 2
3MC Syndrome Type 2, Sequencing COLEC11 Gene
3MCC Panel Deletion/Duplication Analysis
3MCC Panel Sequence and Del/Dup Analysis
3q29 Deletion Syndrome Test
 

4 

46,XX Disorder of Sex Development (DSD) via the WNT4 Gene
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
46,XX gonadal dysgenesis (FSH receptor polymorphisms)
46,XX gonadal dysgenesis (sequence analysis of FSHR gene)
46,XX sex reversal type 1
46,XX Testicular Disorder of Sex Development Test
46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
46,XY sex reversal type 8, modifier of
46XY sex reversal (Geschlechtsumkehr XY)
 

5 

5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)
5-Alpha Reductase Deficiency
5-Alpha Reductase Type 1 Deficiency, Sequencing SRD5A1 Gene
5-alpha-reductase deficiency type 3 (sequence analysis of SRD5A2 gene)
5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations
5-fluorouracil toxicity (2 alleles on MTHFR, 1 allele on TYMS and 1 allele on DPYD genes)
5-oxoprolinase deficiency
508 First
508 ONLY (CFTR deltaF508 Mutation)
5HTT
 

6 

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via the PTS Gene
6-Pyruvoyltetrahydropterin Synthase Deficiency Test
6q24 Methylation Specific-MLPA for transient neonatal diabetes
 

9 

9q22.3 Microdeletion Test
 

A 

A1BG
A1CF
A2M
A2ML1
A4GALT
A4GNT
AAAS
AAAS Del/Dup
AAAS Gene Sequencing
AACS
AADAC
AADACL2
AADACL3
AADACL4
AADAT
AAGAB
AAK1
AAMDC
AAMP
AANAT
AAR2
AARD
AARS
AARS2
AARS2 Deletion/Duplication Analysis
AARS2 Familial Mutation/Variant Analysis
AARS2 Prenatal Sequence Analysis
AARS2 Sequence Analysis
AARS2 Sequence and Deletion/Duplication Analysis
AARSD1
Aarskog (FGD1 Gene)
Aarskog syndrome (deletion/duplication analysis of FGD1 gene)
Aarskog syndrome (sequence analysis of FGD1 gene)
Aarskog Syndrome Test
Aarskog Syndrome, Deletions-Duplications (MLPA) FGD1 Gene
Aarskog Syndrome, Sequencing FGD1 Gene
Aarskog-Scott Syndrome via the FGD1 Gene
Aarskog-Scott Syndrome: FGD1 Gene Deletion/Duplication
Aarskog-Scott Syndrome: FGD1 Gene Sequencing
AASDH
AASDHPPT
AASS
AATF
AATK
Abacavir (HLA-B*57:01) Genotyping
ABAT
ABCA1
ABCA1 Hypoalphalipoproteinemia
ABCA1 Gene Sequencing
ABCA1-Associated Familial High Density Lipoprotein Deficiency Test
ABCA1-Related Disorders Test
ABCA10
ABCA12
ABCA12 Del/Dup
ABCA12 Gene Sequencing
ABCA12 Select Exon Sequencing
ABCA12-Related Autosomal Recessive Congenital Ichthyosis Test
ABCA13
ABCA2
ABCA3
ABCA3 - Surfactant Metabolism Dysfunction, Pulmonary
ABCA3 Gene Sequence Analysis
ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction Test
ABCA4
ABCA4 Del/Dup
ABCA4 Deletion/duplication analysis
ABCA4 gene analysis
ABCA4 Gene Sequencing
ABCA4-Related Retinitis Pigmentosa Test
ABCA4-Related Stargardt Disease 1 Test
ABCA5
ABCA6
ABCA7
ABCA8
ABCA9
ABCB1
ABCB1 c.3435C>T Polymorphism
ABCB1 Sequencing
ABCB11
ABCB11 Deletion/Duplication Analysis
ABCB11 Familial Mutation/Variant Analysis
ABCB11 gene analysis (Intrahepatic Cholestasis)
ABCB11 Gene Sequencing
ABCB11 Prenatal Sequence Analysis
ABCB11 Sequence Analysis
ABCB11 Sequence and Deletion/Duplication Analysis
ABCB11-Related Intrahepatic Cholestasis Test
ABCB4
ABCB4 Deletion/Duplication Analysis
ABCB4 Familial Mutation/Variant Analysis
ABCB4 gene analysis (PFIC3, ICP, LPAC Syndrome)
ABCB4 Gene Sequencing
ABCB4 Prenatal Sequence Analysis
ABCB4 Sequence Analysis
ABCB4 Sequence and Deletion/Duplication Analysis
ABCB5
ABCB6
ABCB6 Deletion/duplication analysis
ABCB6 Gene Sequencing
ABCB7
ABCB7 Full Gene Sequencing Analysis
ABCB8
ABCB9
ABCC1
ABCC10
ABCC11
ABCC12
ABCC2
ABCC2 Gene Sequencing
ABCC2 Genotyping
ABCC3
ABCC4
ABCC4 Genotyping
ABCC5
ABCC6
ABCC6 Del/Dup
ABCC6 gene analysis (Pseudoxanthoma Elasticum)
ABCC6 Gene Sequencing
ABCC6 Hot Spots (Tier I)
ABCC6 Sequencing
ABCC8
ABCC8 Del/Dup
ABCC8 gene analysis (Hyperinsulinism, Neonatal Diabetes Mellitus)
ABCC8 Gene Sequencing
ABCC8 Gene Sequencing and Del/Dup
ABCC8 Prenatal Sequence Analysis (GeneAware)
ABCC8 Sequencing
ABCC8-Related Congenital Hyperinsulinism via the ABCC8 gene
ABCC8-Related Hyperinsulinism Test
ABCC8-Related Hyperinsulinism, 3 Variants
ABCC8-Related Permanent Neonatal Diabetes Mellitus Test
ABCC8-Related Transient Neonatal Diabetes Mellitus 2 Test
ABCC9
ABCD1
ABCD1 Comprehensive
ABCD1 Deletion/Duplication Analysis
ABCD1 Familial Mutation/Variant Analysis
ABCD1 Prenatal Sequence Analysis
ABCD1 Sequence Analysis
ABCD2
ABCD3
ABCD3 Gene Sequencing
ABCD4
ABCD4 Deletion/Duplication Analysis
ABCD4 Familial Mutation/Variant Analysis
ABCD4 Prenatal Sequence Analysis
ABCD4 Sequence Analysis
ABCD4 Sequence and Deletion/Duplication Analysis
ABCD4 Sequencing
ABCE1
ABCF1
ABCF2
ABCF3
ABCG1
ABCG2
ABCG4
ABCG5
ABCG5 Deletion/duplication analysis
ABCG5 Gene Sequencing
ABCG5 Sequencing
ABCG8
ABCG8 Deletion/duplication analysis
ABCG8 Gene Sequencing
ABCG8 Sequencing
Abdominal Pain Spotlight Panel
Abetalipoproteinemia
Abetalipoproteinemia , Sequencing MTTP Gene
Abetalipoproteinemia Test
ABHD1
ABHD10
ABHD11
ABHD12
ABHD12 Deletion/Duplication Analysis
ABHD12 Familial Mutation/Variant Analysis
ABHD12 Prenatal Sequence Analysis
ABHD12 Sequence Analysis
ABHD12 Sequence and Deletion/Duplication Analysis
ABHD13
ABHD14A
ABHD14A-ACY1
ABHD14B
ABHD15
ABHD16A
ABHD16B
ABHD17A
ABHD17B
ABHD2
ABHD4
ABHD5
ABHD5 Del/Dup
ABHD5 Gene Sequencing
ABHD5 Sequencing
ABHD6
ABHD8
ABI2
ABI3BP
ABL Kinase Domain Mutations
ABL1
ABL2
Ablepharon-Macrostomia Syndrome (AMS)
Ablepharon-Macrostomia Syndrome, Sequencing TWIST2 Gene
ABLIM1
ABLIM2
Abnormal Genitalia/ Disorders of Sex Development Panel
Abnormal Mineralization Disorders NGS panel
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
Abnormal mineralization panel
Abnormal Mineralization, Panel Massive Sequencing (NGS) 28 Genes
Abnormal/Ambiguous Genitalia Sequencing Test
ABO
ABRA
ABRACL
Absence of Ulna and Fibula with Severe Limb Deficiency Test
Absence Seizures Spotlight Panel
ABT1
ABTB1
ABTB2
ACAA1
ACACA
ACACA Deletion/Duplication Analysis
ACACA Familial Mutation/Variant Analysis
ACACA Prenatal Sequence Analysis
ACACA Sequence Analysis
ACACA Sequence and Deletion/Duplication Analysis
ACACB
ACACB Deletion/Duplication Analysis
ACACB Familial Mutation/Variant Analysis
ACACB Prenatal Sequence Analysis
ACACB Sequence Analysis
ACACB Sequence and Deletion/Duplication Analysis
ACAD10
ACAD11
ACAD8
ACAD8 Del/Dup
ACAD8 Deletion/Duplication Analysis
ACAD8 Familial Mutation/Variant Analysis
ACAD8 Full Gene Sequencing Analysis
ACAD8 Gene Sequencing
ACAD8 Prenatal Sequence Analysis
ACAD8 Sequence Analysis
ACAD8 Sequence and Deletion/Duplication Analysis
ACAD9
ACAD9 Deficiency: ACAD9 Gene Deletion/Duplication
ACAD9 Deficiency: ACAD9 Gene Sequencing
ACAD9 Deletion/Duplication Analysis
ACAD9 Full Gene Sequencing Analysis
ACAD9 Gene Sequencing
ACAD9 KFM Sequence Analysis
ACAD9 Prenatal Sequence Analysis
ACAD9 Sequence Analysis
ACAD9 Sequence and Deletion/Duplication Analysis
ACADL
ACADL Deletion/Duplication Analysis
ACADL Sequence and Deletion/Duplication Analysis
ACADM
ACADM (p.K329E) Genotyping
ACADM Del/Dup
ACADM Deletion/Duplication Analysis
ACADM Familial Mutation/Variant Analysis
ACADM Full Gene Sequencing Analysis
ACADM Gene Sequencing
ACADM Mutation Detection (T121I)
ACADM Mutation Screen: c.985A>G, K329E
ACADM Prenatal Sequence Analysis
ACADM Prenatal Sequence Analysis (GeneAware)
ACADM Remaining Exons Sequencing
ACADM Select Exons Sequencing
ACADM Sequence Analysis
ACADM Sequence and Deletion/Duplication Analysis
ACADS
ACADS Del/Dup
ACADS Deletion/Duplication Analysis
ACADS Familial Mutation/Variant Analysis
ACADS Full Gene Sequencing Analysis
ACADS Gene Sequencing
ACADS Prenatal Sequence Analysis
ACADS Sequence Analysis
ACADS Sequence and Deletion/Duplication Analysis
ACADSB
ACADSB (M389V) Mutation Analysis
ACADSB Del/Dup
ACADSB Deletion/Duplication Analysis
ACADSB Familial Mutation/Variant Analysis
ACADSB Gene Sequencing
ACADSB Prenatal Sequence Analysis
ACADSB Sequence Analysis
ACADSB Sequence and Deletion/Duplication Analysis
ACADVL
ACADVL Del/Dup
ACADVL Gene Sequencing
ACADVL Deletion/Duplication Analysis
ACADVL Full Gene Sequencing Analysis
ACADVL Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
ACADVL Gene Sequencing
ACADVL MLPA Duplication/Deletion Analysis
ACADVL Prenatal Sequence Analysis (GeneAware)
ACADVL Sequence and Deletion/Duplication Analysis
ACAN
ACAP1
ACAP2
ACAP3
ACAT1
ACAT1 Del/Dup
ACAT1 Deletion/Duplication Analysis
ACAT1 Familial Mutation/Variant Analysis
ACAT1 Gene Sequencing
ACAT1 Prenatal Sequence Analysis
ACAT1 Sequence Analysis
ACAT1 Sequence and Deletion/Duplication Analysis
ACAT1-related 3-ketothiolase deficiency test
ACAT2
Acatalasemia
ACBD3
ACBD4
ACBD5
ACBD6
ACBD7
Accelerated tumor formation, susceptibility to
ACCS
ACCSL
ACD
ACD Gene Sequencing
ACE
ACE Clinical Exome Test
ACE Exome for Research
ACE I/D Polymorphism
ACE Sequencing
ACE2 Sequencing
ACER1
ACER2
ACER3
Aceruloplasminemia (CP)
Aceruloplasminemia , Sequencing CP Gene
Aceruloplasminemia Test (CP gene)
Aceruloplasminemia via the CP Gene
Acetycholinesterase deficiency
Acetyl-CoA carboxylase deficiency
aCGH Deletion/Duplication Analysis
Achalasia addisonianism alacrimia syndrome
Achalasia-Addisonianism-Alacrima Syndrome Test
Achalasia-Addisonianism-Alacrimia Syndrome Test (AAAS)
ACHE
Achondrogenesis Ib Test
Achondrogenesis NGS panel
Achondrogenesis type 1A
Achondrogenesis Type 1A via the TRIP11 Gene
Achondrogenesis Type 1A, Screening Mutations TRIP11 Gene
Achondrogenesis Type 1A, Sequencing TRIP11 Gene
Achondrogenesis type 1B
Achondrogenesis Type 1B (ACG1B) via the SLC26A2 Gene
Achondrogenesis Type 1B (SLC26A2)
Achondrogenesis Type 1B, Screening Mutations SLC26A2 Gene
Achondrogenesis Type 1B, Sequencing SLC26A2 Gene
Achondrogenesis type 2
Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
Achondrogenesis Type 2, Sequencing COL2A1 Gene
Achondrogenesis type IA (sequence analysis of TRIP11 gene)
Achondrogenesis Type II (ACG2)-Hypochondrogenesis via the COL2A1 Gene
Achondrogenesis, type 1B, ACG1B
Achondrogenesis, type IA (ACG1A)
Achondrogenesis, type IA (ACG1A) Comprehensive Test
Achondrogenesis, type IB (ACG1B)
Achondrogenesis, type IB (ACG1B) Comprehensive Test
Achondrogenesis, type II (ACG2) / Hypochondrogenesis
Achondrogenesis, type II (ACG2) / Hypochondrogenesis Comprehensive Test
Achondrogenesis/Hypochondrogenesis, Panel Massive Sequencing (NGS) 5 Genes
Achondroplasia
Achondroplasia (ACH) / Hypochondroplasia (HCH)
Achondroplasia (ACH) / Hypochondroplasia (HCH) Comprehensive Test
Achondroplasia (FGFR3)
Achondroplasia (FGFR3) 2 Mutations
Achondroplasia (FGFR3) 2 Mutations, Fetal
Achondroplasia (FGFR3) Test
Achondroplasia (Prenatal Diagnosis), Mutation (1138 G>A) FGFR3 Gene
Achondroplasia (sequence analysis of exon 9 of FGFR3 gene)
Achondroplasia Mutation Analysis (FGFR3 Gene)
Achondroplasia Test
Achondroplasia Test (the FGFR3 gene - the most common mutations)
Achondroplasia via the FGFR3 Gene, Exon 10
Achondroplasia, FGFR3, exon 10
Achondroplasia, Mutation (1138 G>A) FGFR3 Gene
Achondroplasia/Hypochondroplasia
Achondroplasia/Hypochondroplasia (Achondroplasie / Hypochondroplasie)
Achondroplasia/Hypochondroplasia Panel
Achondroplasia/Thanatophoric Dysplasia Panel
Achromatopsia (ACHM) Deletion/Duplication Panel
Achromatopsia (ACHM) Sequencing Panel
Achromatopsia (ACHM) via the CNGA3 Gene
Achromatopsia (ACHM) via the GNAT2 Gene
Achromatopsia 2 (sequence analysis of CNGA3 gene)
Achromatopsia 2 / Rod Monochromatism 2 Test (the CNGA3 gene - the four most common mutations)
Achromatopsia 2 Test
Achromatopsia 3 (sequence analysis of CNGB3 gene)
Achromatopsia 3 Test
Achromatopsia 3 Test (the CNGB3 gene - the most common mutation)
Achromatopsia 4 (sequence analysis of GNAT2 gene)
Achromatopsia 4 Test
Achromatopsia 5 (sequence analysis of PDE6C gene)
Achromatopsia 5 Test
Achromatopsia 6 (sequence analysis of PDE6H gene)
Achromatopsia NGS Panel
Achromatopsia Panel
Achromatopsia type 2
Achromatopsia Type 2, Sequencing CNGA3 Gene
Achromatopsia type 3
Achromatopsia Type 3 , Sequencing CNGB3 Gene
Achromatopsia type 4
Achromatopsia type 6
Achromatopsia via the CNGB3 Gene
Achromatopsia via the PDE6C Gene
Achromatopsia, CNGA3/CNGB3, Sequencing
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing and Deletion/Duplication Panel
Achromatopsia, Cone, and Cone-Rod Dystrophy: Deletion/Duplication Panel
Achromatopsia, Cone, and Cone-Rod Dystrophy: Sequencing Panel
Achromatopsia, NGS panel
Achromatopsia, Panel Massive Sequencing (NGS) 5 Genes
Acid Sphingomyelinase (SMPD1) Deficiency Test
Acid Sphingomyelinase Deficiency Mutation Test
Acid Sphingomyelinase Deficiency Test
Acid Sphingomyelinase Deficiency, SMPD1 mutation analysis
ACIN1
ACKR1
ACKR2
ACKR3
ACKR4
ACLY
ACMSD
Acne inversa familial type 3
ACO1
ACO2
Aconitase deficiency (sequence analysis of ISCU gene)
ACOT11
ACOT12
ACOT2
ACOT4
ACOT6
ACOT8
ACOX1
ACOX1 Prenatal Sequence Analysis
ACOX1 Gene Sequencing by NGS
ACOX2
ACOX3
ACOXL
ACP1
ACP2
ACP5
ACP6
ACPP
ACPT
Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome), Sequencing LMNB2 Gene
ACR
ACRBP
ACRC
Acrocallosal syndrome
Acrocallosal syndrome (sequence analysis of KIF7 gene)
Acrocallosal, Fetal Hydrolethalus, and Joubert Syndromes via the KIF7 Gene
Acrodermatitis Enteropathica
Acrodermatitis enteropathica (sequence analysis of SLC39A4 gene)
Acrodermatitis Enteropathica, Sequencing SLC39A4 Gene
Acrodermatitis Enteropathica, Zinc-Deficiency Type (SLC39A4)
Acrodysostosis (sequence analysis of PDE4D gene)
Acrodysostosis (sequenece analysis of PRKAR1A gene)
Acrodysostosis 1 test
Acrodysostosis 1, with or without Hormone Resistance Test
Acrodysostosis 2
Acrodysostosis Type 1, Sequencing PRKAR1A
Acrodysostosis type 1, with or without hormone resistance
Acrodysostosis, PRKAR1A gene, exon 11
Acrofacial Dysostosis 1, Nagar Type via the SF3B4 Gene
Acrofacial dysostosis 1, Nager type
Acrofacial Dysostosis 1, Nager Type (AFD1)
Acrofacial Dysostosis 1, Nager Type (AFD1) Comprehensive Test
Acrofacial dysostosis 1, Nager type (sequence analysis of SF3B4 gene)
Acrokeratosis Verruciformis of Hopf , Sequencing ATP2A2 Gene
Acromegaly, predisposition to, due to germline GPR101 mutation
Acromelic frontonasal dysostosis
Acromelic Frontonasal Dysostosis (AFND)
Acromesomelic Dysplasia Maroteaux Type, Sequencing NPR2 Gene
Acromesomelic dysplasia, Hunter-Thompson type (AMDH)
Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene)
Acromesomelic Dysplasia, Hunter-Thompson Type Test
Acromesomelic dysplasia, Maroteaux type
Acromesomelic dysplasia, Maroteaux type (AMDM)
Acromesomelic dysplasia, Maroteaux type (AMDM) Comprehensive Test
Acromesomelic Dysplasia, Maroteaux Type (NPR2)
Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene)
Acromesomelic Dysplasia, Maroteaux Type Test
Acromicric dysplasia (ACMICD)
Acromicric dysplasia (sequence analysis of FBN1 gene)
Acromicric Dysplasia and Geleophysic Dysplasia
ACRV1
ACSBG1
ACSBG2
ACSF2
ACSF3
ACSF3 Deletion/Duplication Analysis
ACSF3 Familial Mutation/Variant Analysis
ACSF3 Gene Sequencing
ACSF3 Prenatal Sequence Analysis
ACSF3 Sequence Analysis
ACSF3 Sequence and Deletion/Duplication Analysis
ACSL1
ACSL3
ACSL4
ACSL4 Related X-linked intellectual disability
ACSL4-related Disorders: ACSL4 Gene Deletion/Duplication
ACSL4-related Disorders: ACSL4 Gene Sequencing
ACSL5
ACSL6
ACSM1
ACSM2A
ACSM2B
ACSM3
ACSM4
ACSM5
ACSM6
ACSS1
ACSS2
ACSS3
ACTA1
ACTA1 Gene Sequencing
ACTA1 Gene Sequencing and NEB Mutation Analysis
ACTA1-Related Congenital Fiber-Type Disproportion Test
ACTA1-Related Nemaline Myopathy Test
ACTA2
ACTA2 - Gene sequencing
ACTA2 Full Gene Sequencing
ACTA2 Gene Sequencing
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections Test
ACTB
ACTBL2
ACTC1
ACTC1 Gene Sequencing
ACTC1-Related Dilated Cardiomyopathy Test
ACTC1-Related Familial Hypertrophic Cardiomyopathy Test
ACTG1
ACTG2
ACTG2 Gene Sequencing
ACTH Deficiency (MC2R) Test
Actionable Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 70 genes)
Activated PI3K-delta Immunodeficiency Syndrome, Sequencing PIK3CD gene
ACTL10
ACTL6B
ACTL7A
ACTL8
ACTN1
ACTN1 Gene Sequencing
ACTN2
ACTN2 Gene Sequencing
ACTN2-Related Dilated Cardiomyopathy Test
ACTN2-Related Familial Hypertrophic Cardiomyopathy Test
ACTN3
ACTN4
ACTN4 Gene Sequencing
ACTN4 Sequencing
ACTR1A
ACTR1B
ACTR2
ACTR3B
ACTR3C
ACTR5
ACTR6
ACTR8
ACTRT1
ACTRT2
ACTRT3
Acute Hepatic Porphyria , Sequencing ALAD Gene
Acute Infantile Liver Failure: TRMU Related
Acute Intermittent Porphyria
Acute intermittent porphyria (deletion/duplication analysis of HMBS gene)
Acute Intermittent Porphyria , Sequencing HMBS Gene
Acute Intermittent Porphyria Test
Acute Intermittent Porphyria via the HMBS Gene
Acute Intermittent Porphyria, Deletions-Duplications (MLPA) HMBS Gene
Acute Intermittent Porphyria: HMBS gene
Acute myelogenous leukemia (detection of mutations PTD on MLL gene)
Acute Myeloid Leukemia (AML) via the CEBPA Gene
Acute myeloid leukemia (AML, sequence analysis of DEK gene)
Acute myeloid leukemia (AML, sequence analysis of FLT3 gene)
Acute myeloid leukemia (AML, sequence analysis of PICALM gene)
Acute myeloid leukemia (AML, sequene analysis of exons 8, 11 and 17 of c-KIT gene)
Acute myeloid leukemia (sequence analysis of exon 12 of NPM1 gene)
Acute Myeloid Leukemia (Susceptibility to), Panel Massive Sequencing (NGS) 21 Genes
Acute Myeloid Leukemia , Sequencing CEBPA Gene in Bone Marrow
Acute Myeloid Leukemia, CEBPA Mutation Assay
Acute Myeloid Leukemia, Mastocytosis, c-KIT Mutation Assay (D816V)
Acute Myeloid Leukemia, Susceptibility, GATA2-Related Test
Acute Myeloid Leukemia: CEBPA mutations
Acute Myeloid Leukemia: Exon 12, NPM1 gene
Acute Porphyria, Multi-Gene Panel
Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
Acute/Neurovisceral Porphyria Deletion/Duplication Panel
Acute/Neurovisceral Porphyria Sequencing Panel
ACVR1
ACVR1 Sequencing
ACVR1B
ACVR1C
ACVR2A
ACVR2B
ACVR2B-Related Visceral Heterotaxy Test
ACVRL1
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia Test
ACY1
ACY3
Acyl-CoA dehydrogenase 9 deficiency (sequence analysis of ACAD9 gene)
Acyl-CoA Dehydrogenase 9 Deficiency Test
Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G mutation on ACADM gene)
Acyl-CoA medium-chain dehydrogenase deficiency
Acyl-CoA medium-chain dehydrogenase deficiency (sequence analysis of ACADM gene)
Acyl-CoA multiple dehydrogenase deficiency
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene
Acyl-CoA Oxidase I Deficiency
Acyl-CoA peroxisomal oxidase deficiency
Acyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene)
Acyl-CoA Peroxisomal Oxidase Deficiency, Sequencing ACOX1 Gene
Acyl-CoA short-chain dehydrogenase deficiency
Acyl-CoA very long-chain dehydrogenase deficiency
ACYP1
ACYP2
ad-PEO with mtDNA Deletions, POLG2
ad-PEO with mtDNA Deletions-4 (PEOA4)
ad-PEO with mtDNA Deletions-4-5 (PEOA4-5)
ADA
ADA Del/Dup
ADA Deletion/duplication analysis
ADA Familial Mutation/Variant Analysis
ADA Gene Sequencing
ADA Prenatal Sequence Analysis
ADA Prenatal Sequence Analysis (GeneAware)
ADA Sequence Analysis
ADAD1
ADAD2
ADAL
ADAM10
ADAM12
ADAM17
ADAM18
ADAM19
ADAM2
ADAM20
ADAM21
ADAM22
ADAM28
ADAM29
ADAM30
ADAM33
ADAM7
ADAM9
Adams-Oliver Syndrome
Adams-Oliver syndrome (AOS2, sequence analysis of DOCK6 gene)
Adams-Oliver syndrome (AOS4, sequence analysis of EOGT gene)
Adams-Oliver syndrome (sequence analysis of ARHGAP31 gene)
Adams-Oliver Syndrome 1 (AOS1)
Adams-Oliver Syndrome 1 (AOS1) Comprehensive Test
Adams-Oliver Syndrome 1: ARHGAP31 gene sequence analysis
Adams-Oliver Syndrome 1: ARHGAP31 gene sequence analysis (exon 12)
Adams-Oliver syndrome 2 (AOS2)
Adams-Oliver syndrome 2 (AOS2) Comprehensive Test
Adams-Oliver syndrome 3 (AOS3)
Adams-Oliver syndrome 3 (AOS3) Comprehensive Test
Adams-Oliver syndrome 3 (AOS3, sequence analysis of RBPJ gene)
Adams-Oliver syndrome 4 (AOS4)
Adams-Oliver syndrome 4 (AOS4) Comprehensive Test
Adams-Oliver syndrome 5 (AOS5)
Adams-Oliver syndrome 6
Adams-Oliver syndrome 6 Comprehensive Test
Adams-Oliver syndrome NGS panel
Adams-Oliver syndrome NGS panel Comprehensive Test
Adams-Oliver Syndrome Panel
Adams-Oliver syndrome type 1
Adams-Oliver syndrome type 2
Adams-Oliver syndrome type 3
Adams-Oliver syndrome type 4
Adams-Oliver syndrome type 6
Adams-Oliver Syndrome via the DOCK6 Gene
Adams-Oliver Syndrome, Panel Massive Sequencing (NGS) 3 Genes
Adams-Oliver Type 1 Syndrome, Sequencing ARHGAP31 Gene
Adams-Oliver Type 2 Syndrome, Sequencing DOCK6 Gene
Adams-Oliver Type 3 Syndrome, Sequencing RBPJ Gene
Adams-Oliver Type 4 Syndrome, Sequencing EOGT Gene
Adams-Oliver Type 5 Syndrome, Sequencing NOTCH1 Gene
Adams-Oliver Type 6 Syndrome, Sequencing DLL4 Gene
ADAMTS1
ADAMTS10
ADAMTS10-Related Weill-Marchesani Syndrome Test
ADAMTS12
ADAMTS13
ADAMTS13 Deletion/duplication analysis
ADAMTS13 Gene Sequencing
ADAMTS13 Sequence Analysis
ADAMTS13 Sequencing
ADAMTS14
ADAMTS16
ADAMTS17
ADAMTS18
ADAMTS2
ADAMTS2 Gene Sequencing
ADAMTS20
ADAMTS3
ADAMTS4
ADAMTS5
ADAMTS6
ADAMTS7
ADAMTS8
ADAMTS9
ADAMTSL1
ADAMTSL2
ADAMTSL3
ADAMTSL4
ADAMTSL4 Gene Sequencing
ADAMTSL4-Related Eye Disorders Test
ADAR
ADAR - Gene sequencing
ADAR Full Gene Sequencing Analysis
ADAR Gene Sequencing
ADARB1
ADAT1
ADAT2
ADAT3
ADCK1
ADCK2
ADCK3
ADCK3 Full Gene Sequencing Analysis
ADCK3 Sequencing
ADCK4
ADCK5
ADCY1
ADCY10
ADCY3
ADCY4
ADCY5
ADCY6
ADCY7
ADCY8
ADCY9
ADCYAP1
ADCYAP1R1
ADD1
ADD2
ADD3
Adenine Nucleotide Translocase 1 seq
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma of lung, somatic (sequence analysis of ERBB2 gene)
Adenomatous Polyposis (APC and MUTYH Gene Sequence and Deletion/ Duplication Analyses)
Adenomatous polyposis (Familiäre adenomatöse Polypose)
Adenomatous Polyposis, Familial 2 (FAP2): MYH gene sequence analysis
Adenosine Deaminase Deficiency
Adenosine Deaminase Deficiency (ADA)
Adenosine Deaminase Deficiency Test
Adenosine Deaminase Deficiency via the ADA Gene
Adenosine Monophosphate Deaminase (AMPD) Deficiency, Erythrocytic: AMPD3 Gene Deletion/Duplication
Adenosine Monophosphate Deaminase (AMPD) Deficiency, Erythrocytic: AMPD3 Gene Sequencing
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Deletion/Duplication
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Gene Sequencing
Adenosine Monophosphate Deaminase 1 (AMPD1) Deficiency: AMPD1 Two Mutation Panel
Adenosine Monophosphate Deaminase Deficiency, Sequencing AMPD1 Gene
Adenosine triphosphate, elevated, of erythrocytes
Adenylosuccinase deficiency
Adenylosuccinase deficiency (sequence analysis of ADSL gene)
Adenylosuccinase Deficiency Test
Adenylosuccinase Deficiency via the ADSL Gene
Adenylosuccinate Lyase (ADSL) Deficiency Test
ADGB
ADGRA1
ADGRA2
ADGRA3
ADGRB2
ADGRB3
ADGRD1
ADGRE1
ADGRE2
ADGRE3
ADGRE5
ADGRF1
ADGRF2
ADGRF3
ADGRF4
ADGRF5
ADGRG1
ADGRG3
ADGRG4
ADGRG5
ADGRG6
ADGRG7
ADGRL1
ADGRL2
ADGRL3
ADGRL4
ADGRV1
ADH1A
ADH1B
ADH1C
ADH2*2 Allel Detection
ADH4
ADH5
ADH7
ADHFE1
ADIG
ADIPOQ
ADIPOR1
ADIPOR2
ADK
ADM
ADM5
ADNP
ADNP2
ADO
ADORA1
ADORA2A
ADORA3
ADP Receptor Deficiency via the P2RY12 Gene
ADPGK
ADPRH
ADPRHL1
ADPRHL2
ADPRM
ADRA1A
ADRA2A
ADRA2B
ADRA2C
ADRB1
ADRB2
ADRB3
ADRBK1
ADRBK2
Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis of CYP21A2 gene)
Adrenal hyperplasia due to 21-hydroxylase deficiency
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (sequence analysis of POR gene)
Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency
Adrenal hyperplasia, congenital (Adrenogenitales Syndrom)
Adrenal hypoplasia
Adrenal Hypoplasia Test (the DAX1 gene - entire)
Adrenal Insufficiency (TBX19) Sequencing Test
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (sequence analysis of CYP11A1 gene)
Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete Test
Adrenocortical hereditary carcinoma (sequence analysis of TP53 gene)
Adrenocorticotropic hormone deficiency
Adrenoleukodystrophy (ABCD1 Gene)
Adrenoleukodystrophy (ABCD1), Deletions/Duplications and Sequencing
Adrenoleukodystrophy (sequence analysis of ABCD1 gene)
Adrenoleukodystrophy X-lined test
Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing
Adrenoleukodystrophy, x-linked
Adrenoleukodystrophy, X-Linked (ABCD1) Deletion/Duplication
Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication
Adrenoleukodystrophy, X-linked (ABCD1) Test
Adrenoleukodystrophy, X-Linked (ALD) Test
Adrenoleukodystrophy, X-Linked Test
Adrenoleukodystrophy, X-Linked: ABCD1 gene deletions-duplications analysis (MLPA)
Adrenoleukodystrophy/Adrenomyeloneuropathy
Adrenoleukodystrophy: Full gene sequencing (Rapid testing)
Adrenoleukodystrophy: X-Linked
ADRM1
adRP mutation detection in 15 genes: CA4, FSCN2, IMPDH1, NRL, PPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX , TOPORS and PNR
adRP Tier 1
adRP Tier 2
adRP Tier 3
ADSL
ADSL Deletion/Duplication Analysis
ADSL Familial Mutation/Variant Analysis
ADSL Full Gene Sequencing Analysis
ADSL Prenatal Sequence Analysis
ADSL Sequence Analysis
ADSL Sequence and Deletion/Duplication Analysis
ADSS
ADTRP
ADULT (Acro Dermato Ungual Lacrimal Tooth) Syndrome NGS Panel
Adult Hereditary Hemochromatosis Type 1 (HFE gene)
Adult onset dementia and psychosis
Adult Screening Exome
ADULT Syndrome Test (the TP63 gene - entire)
ADULT Syndrome Test (the TP63 gene - exons: 13,14 )
ADULT Syndrome Test (the TP63 gene - exons: 5-8)
ADULT Syndrome Test (the TP63 gene - exons: 5-8,13,14 - selected fragments/the most common mutations)
ADULT Syndrome, Sequencing TP63 Gene
ADULT syndrome, split hand-foot malformation
Adult-onset citrullinemia Type II: Full gene sequencing (Rapid testing)
Advanced mtDNA Point Mutations and Deletions-NGS
AEBP1
AEN
AFAP1
AFAP1L1
AFAP1L2
AFF1
AFF2
AFF3
AFF4
AFG3L2
Afibrinogenemia (Afibrinogenemia/ Dysfibrinogenemia)
Afibrinogenemia panel
Afibrinogenemia, congenital
Afibrinogenemia, congenital (sequence analysis of FGA gene)
Afibrinogenemia, congenital (sequence analysis of FGG gene)
AFM
AFMID
AFP
AFTPH
AGA
AGA Del/Dup
AGA Familial Mutation/Variant Analysis
AGA Gene Sequencing
AGA Prenatal Sequence Analysis
AGA Prenatal Sequence Analysis (GeneAware)
AGA Sequence Analysis
Agammaglobulinemia (Agammaglobulinämie)
Agammaglobulinemia 1, Autosomal Recessive Test
Agammaglobulinemia and isolated hormone deficiency
Agammaglobulinemia panel
Agammaglobulinemia type 1, autosomal recessive
Agammaglobulinemia type 1, X-linked
Agammaglobulinemia type 2, autosomal recessive
Agammaglobulinemia type 3, autosomal recessive
Agammaglobulinemia type 4, autosomal recessive
Agammaglobulinemia type 5, autosomal recessive
Agammaglobulinemia type 6, autosomal recessive
Agammaglobulinemia type 7, autosomal recessive
Agammaglobulinemia, X-Linked (sequence analysis of BTK gene)
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes
AGAP11
AGAP2
AGAP5
AGAP6
AGBL1
AGBL2
AGBL3
AGBL4
AGBL5
Age-Related Macular Degeneration Test
Age-Related Macular Degeneration Test (AMD) - (ARMS2, C2, CFB, CFH genes - selected polymorphisms)
Age-Related Macular Degeneration Test (AMD) - (the ARMS2 gene - selected polymorphisms)
Age-Related Macular Degeneration Test (AMD) - (the C2 gene - selected polymorphisms)
Age-Related Macular Degeneration Test (AMD) - (the CFB gene - selected polymorphisms)
Age-Related Macular Degeneration Test (AMD) - (the CFH gene - selected polymorphisms)
Agenesis of Corpus Callosum with Peripheral Neuropathy , Sequencing Exons (11,15,18,22) SLC12A6 Gene
Agenesis of Corpus Callosum with Peripheral Neuropathy , Sequencing SLC12A6 Gene
Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia Test
Agenesis of the corpus callosum with peripheral neuropathy
Agenesis of the corpus callosum with peripheral neuropathy (sequence analysis of SLC12A6 gene)
AGER
AGFG1
AGGF1
AGK
AGK Gene Sequencing
AGL
AGL Deletion/Duplication Analysis
AGL KFM Sequence Analysis
AGL Prenatal Sequence Analysis
AGL Prenatal Sequence Analysis (GeneAware)
AGL Sequence and Deletion/Duplication Analysis
AGMO
Agnathia-Otocephaly Complex Sanger Sequencing Panel
Agnathia-Otocephaly Complex via the PRRX1 Gene
AGO1
AGO2
AGO3
AGO4
AGPAT1
AGPAT2
AGPAT2 Sequencing
AGPAT3
AGPAT4
AGPS
AGPS Prenatal Sequence Analysis
AGPS Gene Sequencing by NGS
AGR2
AGR3
AGRN
AGRN-Related Congenital Myasthenic Syndrome Test
AGRP
AGS Panel
AGS Tier 1
AGS Tier 2
AGT
AGT Sequencing
AGTR1
AGTR1 Sequencing
AGTR2
AGTRAP
AGXT
AGXT Gene Sequencing and Del/Dup
AGXT Del/Dup
AGXT Deletion/duplication analysis
AGXT Gene Sequencing
AGXT Gene, Full Gene Analysis
AGXT Mutation Analysis (G170R)
AGXT Prenatal Sequence Analysis (GeneAware)
AGXT Sequencing
AGXT-related primary hyperoxaluria test
AGXT2
AHCTF1
AHCY
AHCY Familial Mutation/Variant Analysis
AHCY Prenatal Sequence Analysis
AHCY Sequence Analysis
AHCYL2
AHDC1
AHI1
AHI1 Gene Sequencing
AHI1-Related Joubert Syndrome Test
AHNAK
AHNAK2
AHR
AHRR
AHSA1
AHSA2
AHSG
AHSP
aHUS Genetic Evaluation
aHUS Genetic Panel
aHUS Genetic Susceptibility Deletion/Duplication Panel
aHUS Genetic Susceptiblity Panel
aHUS/TMA/C3 Glomerulopathy Gene Set
Aicardi-Gouti
Aicardi-Goutieres Full Gene Sequencing Analysis Panel (6 genes)
Aicardi-Goutieres MLPA Duplication/Deletion Analysis
Aicardi-Goutieres Sequencing Panel (6 genes) with MLPA Duplication/Deletion Analysis
Aicardi-Goutières Syndrome
Aicardi-Goutieres Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 6 genes)
Aicardi-Goutieres syndrome (NGS panel for TREX1, RNASEH2B, RNASEH2C, RNASEH2A and SAMHD1 gene)
Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 gene)
Aicardi-Goutieres syndrome 2 (sequence analysis of RNASEH2B gene)
Aicardi-Goutières Syndrome 2 via the RNASEH2B Gene
Aicardi-Goutieres syndrome 3 (sequence analysis of RNASEH2C gene)
Aicardi-Goutières Syndrome 3 via the RNASEH2C Gene
Aicardi-Goutieres syndrome 4 (sequence analysis of RNASEH2A gene)
Aicardi-Goutières Syndrome 4 via the RNASEH2A Gene
Aicardi-Goutiéres Syndrome 5 via the SAMHD1 Gene
Aicardi-Goutieres Syndrome 7 and Singleton-Merton Syndrome 1 via the IFIH1 Gene
Aicardi-Goutieres Syndrome Deletion/Duplication Panel
Aicardi-Goutieres Syndrome NGS Panel
Aicardi-Goutieres Syndrome Panel
Aicardi-Goutieres Syndrome Sequencing Panel
Aicardi-Goutieres Syndrome Spotlight Panel
Aicardi-Goutieres Syndrome Test
Aicardi-Goutieres syndrome type 1
Aicardi-Goutieres syndrome type 2
Aicardi-Goutieres syndrome type 3
Aicardi-Goutieres syndrome type 4
Aicardi-Goutieres syndrome type 5
Aicardi-Goutieres syndrome type 5 (sequence analysis of SAMHD1 gene)
Aicardi-Goutieres syndrome type 6
Aicardi-Goutieres syndrome type 7
Aicardi-Goutieres Syndrome, Panel Massive Sequencing 7 Genes
Aicardi-Goutieres Syndromes NGS Panel
Aicardi-Goutieres Type 1 Syndrome, Sequencing TREX1 Gene
Aicardi-Goutieres Type 2 Syndrome, Sequencing RNASEH2B Gene
Aicardi-Goutieres Type 3 Syndrome, Sequencing RNASEH2C Gene
Aicardi-Goutieres Type 4 Syndrome, Sequencing RNASEH2A Gene
Aicardi-Goutieres Type 5 Syndrome, Sequencing SAMHD1 Gene
Aicardi-Goutieres Type 6 Syndrome, Sequencing ADAR Gene
AICDA
AICDA Del/Dup
AICDA Gene Sequencing
AICDA Sequencing
AIDA
AIF1
AIF1L
AIFM1
AIFM1 Full Gene Sequencing Analysis
AIFM1-Related Disorders via the AIFM1 Gene
AIFM2
AIFM3
AIM1
AIM1L
AIM2
AIMP1
AIMP1 - Gene sequencing
AIMP2
AIP
AIP Deletion/duplication analysis
AIP Gene Sequencing
AIP-Related Familial Isolated Pituitary Adenomas
AIP-Related Familial Isolated Pituitary Adenomas Test
AIPL1
AIPL1 Del/Dup
AIPL1 Deletion/Duplication Analysis
AIPL1 Familial Mutation/Variant Analysis
AIPL1 Gene Sequencing
AIPL1 Prenatal Sequence Analysis
AIPL1 Sequence Analysis
AIPL1 Sequence and Deletion/Duplication Analysis
AIPL1 Sequencing
AIPL1-Related Leber Congenital Amaurosis Test
AIPL1-Related Retinitis Pigmentosa Test
AIRE
AIRE Del/Dup
AIRE Deletion/duplication analysis
AIRE Gene Sequencing
AIRE Remaining Exons
AIRE Select Exons
AIRE Sequencing
AJUBA
AK1
AK1 Deletion/Duplication Analysis
AK1 Gene Sequencing
AK2
AK3
AK4
AK6
AK7
AK9
AKAP1
AKAP10
AKAP11
AKAP12
AKAP13
AKAP14
AKAP2
AKAP3
AKAP4
AKAP5
AKAP6
AKAP8
AKAP8L
AKAP9
AKAP9 Gene Sequencing
AKNAD1
AKR1A1
AKR1B1
AKR1B1 Sequencing
AKR1B10
AKR1B15
AKR1C1
AKR1C2
AKR1C3
AKR1C4
AKR1D1
AKR1D1 Gene Sequencing
AKR1D1 Gene Sequencing by NGS
AKR1D1 Prenatal Sequence Analysis
AKR1E2
AKR7A2
AKR7A3
AKT1
AKT1 Gene Sequencing
AKT1 Gene Sequencing
AKT1S1
AKT2
AKT2 deletion/duplication
AKT2 sequencing
AKT3
AKTIP
Al-Awadi/Raas-Rothschild Syndrome Test (the WNT7A gene - entire)
Alacrima, achalasia and mental retardation syndrome
Alactasia Test (the LCT gene - the most common mutation)
ALAD
ALAD Gene Sequencing and Del/Dup
Alagille Syndrome
Alagille syndrome (Alagille-Syndrom)
Alagille syndrome (deletion/duplication analysis of JAG1 gene)
Alagille Syndrome (JAG1 analysis for a known point mutation)
Alagille Syndrome (JAG1 deletion/duplication analysis)
Alagille Syndrome (JAG1 sequence analysis)
Alagille Syndrome (JAG1 sequence and deletion/duplication analysis)
Alagille syndrome (sequence analysis of JAG1 gene)
Alagille syndrome 1 (ALGS1)
Alagille syndrome 1 (ALGS1) Comprehensive Test
Alagille syndrome 2 (ALGS2)
Alagille syndrome 2 (ALGS2) Comprehensive Test
Alagille syndrome 2 (sequence analysis of NOTCH2 gene)
Alagille Syndrome Deletion/Duplication Panel
Alagille syndrome NGS panel
Alagille Syndrome Sequencing Panel
Alagille Syndrome Test
Alagille syndrome type 1
Alagille Syndrome Type 1 , Sequencing Rest Exons JAG1 Gene
Alagille Syndrome Type 1, Deletions-Duplications (MLPA) JAG1 Gene
Alagille Syndrome Type 1, Sequencing JAG1 Gene
Alagille Syndrome Type 1, Sequencing Exons (1-6, 9, 12, 17, 20, 23, 24) JAG1 Gene
Alagille syndrome type 2
Alagille Syndrome Type 2, Sequencing NOTCH2 Gene
Alagille Syndrome Types 1 and 2, Panel Massive Sequencing (NGS) JAG1, NOTCH2 Genes
Alagille Syndrome, ATP8B1 related
Alagille Syndrome-1 via the JAG1 Gene
Alagille Syndrome: JAG1 gene
Aland Island eye disease
Aland Island eye disease (sequence analysis of CACNA1F gene)
Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene)
ALAS1
ALAS2
ALAS2 Deletion/duplication analysis
ALAS2 Gene Sequencing
ALAS2 Gene Sequencing and Del/Dup
Alazami syndrome
ALB
Albinism
Albinism (Albinismus)
Albinism (NGS panel for 12 genes)
Albinism Deletion/Duplication panel
Albinism NGS Panel
Albinism oculocutaneous type II (deletion on OCA2 gene)
Albinism oculocutaneous type II (sequence analysis of OCA2 gene)
Albinism oculocutaneous type VI (sequence analysis of SLC24A5 gene)
Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene)
Albinism panel
Albinism Panel by Massively Parallel Sequencing
Albinism Sequencing Panel
Albinism, ocular type I, Nettleship-Falls type
Albinism, oculocutaneous nonsyndromic
Albinism, oculocutaneous type 1A
Albinism, oculocutaneous type 1B
Albinism, oculocutaneous type 2
Albinism, oculocutaneous type 3
Albinism, oculocutaneous type 4
Albinism, oculocutaneous type 5
Albinism, oculocutaneous type I (sequence analysis of TYR gene)
Albinism, oculocutaneous type IB (deletion/duplication analysis of TYR gene)
Albinism, Panel Massive Sequencing (NGS) 12 Genes
Albinism: Deletion/Duplication Panel
Albinism: Sequencing and Deletion/Duplication Panel
Albinism: Sequencing Panel
Albright Hereditary Osteodystrophy, Pseudohypoparathyroidism type 1A: GNAS gene
ALCAM
ALDH16A1
ALDH18A1
ALDH1A1
ALDH1A2
ALDH1A3
ALDH1B1
ALDH1L1
ALDH1L2
ALDH2
ALDH2*2 Allel Detection
ALDH3A1
ALDH3A2
ALDH3A2 Del/Dup
ALDH3A2 Gene Sequencing
ALDH3A2 Prenatal Sequence Analysis (GeneAware)
ALDH3B1
ALDH3B2
ALDH4A1
ALDH4A1 Deletion/Duplication Analysis
ALDH4A1 Familial Mutation/Variant Analysis
ALDH4A1 Prenatal Sequence Analysis
ALDH4A1 Sequence Analysis
ALDH4A1 Sequence and Deletion/Duplication Analysis
ALDH5A1
ALDH5A1 Deletion/Duplication Analysis
ALDH5A1 Familial Mutation/Variant Analysis
ALDH5A1 Full Gene Sequencing Analysis
ALDH5A1 Prenatal Sequence Analysis
ALDH5A1 Sequence Analysis
ALDH5A1 Sequence and Deletion/Duplication Analysis
ALDH6A1
ALDH7A1
ALDH7A1 Full Gene Sequencing Analysis
ALDH7A1 KFM Sequence Analysis
ALDH7A1 Prenatal Sequence Analysis
ALDH7A1 Sequence Analysis
ALDH8A1
ALDOA
ALDOA Deletion/duplication analysis
ALDOA Familial Mutation/Variant Analysis
ALDOA Gene Sequencing
ALDOA Prenatal Sequence Analysis
ALDOA Sequence Analysis
ALDOB
ALDOB Deletion/Duplication Analysis
ALDOB Familial Mutation/Variant Analysis
ALDOB Gene Sequencing and Del/Dup
ALDOB Prenatal Sequence Analysis
ALDOB Prenatal Sequence Analysis (GeneAware)
ALDOB Sequence Analysis
ALDOB Sequence and Deletion/Duplication Analysis
ALDOB Sequencing
ALDOB-related Hereditary fructose intolerance test
ALDOC
Aldolase B (Hereditary Intolerance To Fructose) , Sequencing ALDOB Gene
Alexander disease
Alexander Disease (GFAP) Test
Alexander disease (sequence analysis of GFAP gene)
Alexander Disease Test
Alexander Disease Test (GFAP)
Alexander Disease via the GFAP Gene
Alexander Disease, Sequencing GFAP Gene
ALG1
ALG1 Familial Mutation/Variant Analysis
ALG1 Prenatal Sequence Analysis
ALG1 Sequence Analysis
ALG10
ALG10B
ALG11
ALG11 Gene Sequencing by NGS
ALG11 Prenatal Sequence Analysis
ALG12
ALG12 Gene Sequencing by Massively Parallel Sequencing
ALG12 Prenatal Sequence Analysis
ALG13
ALG13 Gene Sequencing by NGS
ALG13 Prenatal Sequence Analysis
ALG13 Sequencing
ALG14
ALG1L
ALG1L2
ALG2
ALG2 Deletion/Duplication Analysis
ALG2 Familial Mutation/Variant Analysis
ALG2 Prenatal Sequence Analysis
ALG2 Sequence Analysis
ALG2 Sequence and Deletion/Duplication Analysis
ALG3
ALG3 Gene Sequencing by Massively Parallel Sequencing
ALG3 Prenatal Sequence Analysis
ALG5
ALG6
ALG6 Gene Sequencing by Massively Parallel Sequencing
ALG6 Prenatal Sequence Analysis
ALG6-CDG (CDG-Ic) Test
ALG8
ALG8 Gene Sequencing by Massively Parallel Sequencing
ALG8 Prenatal Sequence Analysis
ALG8-CDG (CDG-Ih) Test
ALG9
ALG9 Gene Sequencing by Massively Parallel Sequencing
ALG9 Prenatal Sequence Analysis
ALK
Alkaptonuria
Alkaptonuria (sequence analysis of HGD gene)
Alkaptonuria Test
Alkaptonuria via the HGD Gene
Alkaptonuria, Sequencing HGD Gene
ALKBH1
ALKBH2
ALKBH3
ALKBH4
ALKBH5
ALKBH7
ALKBH8
ALL
All centromere panel (MLPA)
All-in-One
Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome (sequence analysis of SLC16A2 gene)
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene
Allan-Herndon-Dudley Syndrome, Sequencing SLC16A2 Gene
Allan-Herndon-Dudley Syndrome: SLC16A2 Gene Deletion/Duplication
Allan-Herndon-Dudley Syndrome: SLC16A2 gene sequence analysis
Allan-Herndon-Dudley Syndrome: SLC16A2 Gene Sequencing
ALLC
Allgrove Syndrome, Mutations (C.43C >T; IVS11 + 1G>A, IVS14 + 1G>A) AAAS Gene
Allgrove Syndrome, Sequencing AAAS Gene
ALMS1
ALMS1 deletion/duplication
ALMS1 sequencing
Alopecia universalis
Alopecia universalis (sequence analysis of HR gene)
Alopecia Universalis, Sequencing HR Gene
ALOX12
ALOX12B
ALOX12B Del/Dup
ALOX12B Gene Sequencing
ALOX12B-Related Autosomal Recessive Congenital Ichthyosis Test
ALOX15
ALOX15B
ALOX5
ALOX5AP
ALOXE3
ALOXE3 Del/Dup
ALOXE3 Gene Sequencing
ALOXE3-Related Autosomal Recessive Congenital Ichthyosis Test
Alpers-Huttenlocher Syndrome, Deletions-Duplications (MLPA) POLG Gene
Alpers-Huttenlocher Syndrome, Sequencing POLG Gene
Alpers-Huttenlocher Syndrome: POLG gene sequence analysis
Alpha Globin (HBA1 and HBA2) Deletion/Duplication
Alpha Globin (HBA1 and HBA2) Sequencing
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication
Alpha methylacyl CoA racemase deficiency (sequence analysis of AMACR gene)
Alpha Thalassemia
Alpha Thalassemia (HBA1 and HBA2) 7 Deletions
Alpha Thalassemia analysis for a known point mutation
Alpha Thalassemia deletion/duplication analysis
Alpha Thalassemia HBA1-HBA2
Alpha Thalassemia Mutation Screening
Alpha Thalassemia sequence analysis
Alpha Thalassemia, Deletions 3.7/4.2 PCR
Alpha Thalassemia, Deletions 3.7/4.2/20.5/BE/FIL/MED PCR
Alpha Thalassemia, Deletions-Duplications (MLPA) HBA1 and HBA2 Genes
Alpha Thalassemia, Sequencing HBA1 Gene
Alpha Thalassemia, Sequencing HBA2 Gene
Alpha Thalassemia/Hb Constant Spring
Alpha thalassemia: Full gene panel sequencing (Rapid testing)
Alpha-1 antitrypsin deficiency (genotyping)
Alpha-1 antitrypsin deficiency (sequence analysis of SERPINA1 gene)
Alpha-1 Antitrypsin deficiency test
Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene
Alpha-1 Antitrypsin Deficiency: SERPINA1 gene
Alpha-1-Antitripsin Deficency Test (exons: 2-3)
Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Alpha-1-Antitrypsin Deficiency
Alpha-1-Antitrypsin Deficiency (AAT): SERPINA1 gene sequence analysis
Alpha-1-Antitrypsin Deficiency Test
Alpha-1-Antitrypsin Genotype Determination (M, S, Z Alleles)
Alpha-1-Antitrypsin Mutation / Genotyping
Alpha-2-macroglobulin deficiency
Alpha-2-macroglobulin deficiency (sequence analysis of A2M gene)
Alpha-B Crystallinopathy Test
Alpha-Dystroglycanopathy
Alpha-galactosidase (GLA) Deficiency Test
Alpha-Globin Gene Analysis-(Alpha-Thalassemia)
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-L-iduronidase (IDUA) deficiency Test
Alpha-mannosidase (sequence analysis of MAN2B1 gene)
Alpha-Mannosidosis
Alpha-Mannosidosis (MAN2B1)
Alpha-Mannosidosis Test
Alpha-Mannosidosis via the MAN2B1 Gene
Alpha-Mannosidosis, Sequencing MAN2B1 Gene
Alpha-Mannosidosis: MAN2B1 Gene Deletion/Duplication
Alpha-Mannosidosis: MAN2B1 Gene Sequencing
Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency): Full gene sequencing (Rapid testing)
Alpha-methylacetoacetic aciduria (ACAT1) Test
Alpha-methylacetoacetic aciduria (sequence analysis of ACAT1 gene)
Alpha-methylacyl CoA racemase deficiency
Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Methylacyl-CoA Racemase Deficiency Test
Alpha-Methylacyl-CoA Racemase Deficiency, Sequencing AMACR Gene
Alpha-N-acetylgalactosaminidase (Alpha-NAGA) Deficiency: NAGA Gene Sequencing
Alpha-N-acetylgalactosaminidase deficiency (sequence analysis of NAGA gene)
Alpha-Sarcoglycanopathy
Alpha-Sarcoglycanopathy Test
Alpha-thalassaemia gene mapping
Alpha-Thalassemia
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes)
Alpha-Thalassemia (HBA1/HBA2)
Alpha-thalassemia Deletions
Alpha-Thalassemia Test
Alpha-Thalassemia X-Linked (ATRX) Intellectual Disability Syndrome Test
Alpha-Thalassemia X-Linked Intellectual Disability Ayndrome: ATRX gene screening (exons 7-9 and 17-20)
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome (ATRX)
Alpha-thalassemia X-linked intellectual disability syndrome (sequence analysis of ATRX gene)
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome - ATRX
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Test
Alpha-Thalassemia X-linked Intellectual Disability Syndrome via the ATRX Gene
Alpha-Thalassemia X-Linked MR Syndrome: ATRX Gene Deletion/Duplication
Alpha-Thalassemia X-Linked MR Syndrome: ATRX Gene Sequencing
Alpha-thalassemia/mental retardation syndrome
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis
Alpha1-Antitrypsin Deficiency
Alpha1-Antitrypsin Deficiency (SERPINA1)
Alpha1-Antitrypsin Deficiency Test
Alpha1-Antitrypsin Deficiency Test (exons: 4-5)
Alpha1-Antitrypsin Deficiency, Sequencing SERPINA1 Gene
ALPI
ALPK1
ALPK2
ALPK3
ALPL
ALPL Comprehensive
ALPL Deletion/Duplication Analysis
ALPL Familial Mutation/Variant Analysis
ALPL Gene Sequencing
ALPL Prenatal Sequence Analysis
ALPL Prenatal Sequence Analysis (GeneAware)
ALPL Sequence Analysis
Alport Syndrome
Alport Syndrome (AS) Deletion/Duplication Panel
Alport Syndrome (AS) Sequencing Panel
Alport Syndrome (AS) via the COL4A3 Gene
Alport Syndrome (AS) via the COL4A4 Gene
Alport Syndrome (AS) via the COL4A5 Gene
Alport Syndrome (COL4A3, COL4A4 and COL4A5 exons and splice-site junctions sequencing)
Alport syndrome (deletion/duplication analysis of COL4A5 gene)
Alport syndrome (deletions/duplications analysis of COL4A3 gene)
Alport syndrome (deletions/duplications analysis of COL4A4 gene)
Alport syndrome (NGS panel for COL4A3, COL4A4 and COL4A5 genes)
Alport syndrome (sequence analysis of COL4A3 gene)
Alport syndrome (sequence analysis of COL4A4 gene)
Alport syndrome (sequence analysis of COL4A5 gene)
Alport Syndrome , Deletions-Duplications (MLPA) COL4A5 Gene
Alport Syndrome / Fechtner Syndrome
Alport Syndrome Gene Set
Alport Syndrome NGS Panel
Alport syndrome NGS panel Comprehensive Test
Alport Syndrome Pane (COL4A3, COL4A4, COL4A5)
Alport Syndrome Panel
Alport syndrome, autosomal recessive
Alport syndrome, COL4A3-related
Alport Syndrome, Deletions-Duplications (MLPA) COL4A3 Gene
Alport Syndrome, Deletions-Duplications (MLPA) COL4A4 Gene
Alport Syndrome, Panel Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes
Alport Syndrome, Sequencing COL4A3 Gene
Alport Syndrome, Sequencing COL4A4 Gene
Alport syndrome, X-Linked
Alport syndrome, X-linked (ATS)
Alport syndrome, X-linked (ATS) Comprehensive Test
Alport Syndrome, X-linked (COL4A5) Deletion/Duplication
Alport Syndrome, X-linked (COL4A5) Sequencing
Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication
Alport Syndrome: COL4A3 gene sequence analysis
Alport Syndrome: COL4A3 Related
Alport Syndrome: COL4A4 gene sequence analysis
Alport Syndrome: COL4A4 Related
Alport syndrome: COL4A5 gene deletions-duplications analysis (MLPA)
Alport Syndrome: X-linked
ALPP
ALPPL2
ALS2
ALS2-Related Disorders Test
ALS2-Related Disorders via the ALS2 Gene
ALS2CL
ALS2CR11
ALS2CR12
Alstrom syndrome
Alstrom syndrome (sequence analysis of ALMS1 gene)
Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene)
Alstrom Syndrome Test
Alstrom Syndrome Test (the ALMS1 gene - selected fragments/the most common mutations)
Alstrom Syndrome via the ALMS1 Gene
Alstrom Syndrome, Sequencing ALMS1 Gene
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood 2 (sequence analysis of ATP1A3 gene)
Alternating hemiplegia of childhood type 1
Alternating hemiplegia of childhood type 2
Alveolar capillary dysplasia with misalignment of pulmonary veins
Alveolar capillary dysplasia with misalignment of pulmonary veins (sequence analysis of FOXF1 gene)
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Test
ALX1
ALX4
Alzheimer and dementia: Deletion/Duplication Panel
Alzheimer and dementia: Sequencing Panel
Alzheimer Dementia (APP gene)
Alzheimer Dementia (PSEN1 gene)
Alzheimer Dementia (PSEN2 gene)
Alzheimer dementia and dementia panel
Alzheimer disease (Alzheimer Erkrankung)
Alzheimer disease (NGS panel for 8 genes)
Alzheimer disease 1, familial , APP
Alzheimer Disease 3 Test (the PSEN1 gene - selected fragments - exons: 5-8)
Alzheimer Disease Risk Factor (APOE Genotype) Test
Alzheimer Disease Test (the APP gene - exon 17)
Alzheimer disease type 1
Alzheimer Disease Type 1 (APP)
Alzheimer disease type 1 (sequence analysis of APP gene)
Alzheimer disease type 1 (sequence analysis of exons 16 and 17 of APP gene)
Alzheimer Disease Type 1 Test
Alzheimer disease type 2
Alzheimer disease type 2 (APOE gene, alleles E2, E3 and E4)
Alzheimer disease type 3
Alzheimer disease type 3 (deletion/duplication analysis on PSEN1 gene)
Alzheimer Disease Type 3 (PSEN1)
Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
Alzheimer Disease Type 3 Test
Alzheimer disease type 4
Alzheimer Disease Type 4 (PSEN2)
Alzheimer Disease Type 4 Test
Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes)
Alzheimer Disease, Screening Frequent Mutations (APOE,PSEN1, PSEN2,APP, A2M, MAPT) Genes
Alzheimer Disease, Sequencing (MAPT,CLU,PICALM,CR1) Genes
Alzheimer Disease, Sequencing Selected Exons PSEN1, PSEN2 Genes
Alzheimer Disease, APP Gene Exon 16 and 17 Genetic Analysis, Alzheimer Type 1
Alzheimer Disease, APP Gene Genetic Analysis, Alzheimer Type 1
Alzheimer Disease, Deletions-Duplications (MLPA) APP Gene
Alzheimer Disease, Deletions-Duplications (MLPA) PSEN1 Gene
Alzheimer Disease, Familial or Cerebral Amyloid Angiopathy via the APP Gene
Alzheimer Disease, Familial via the APP Gene, Exons 16 and 17
Alzheimer Disease, Familial, Deletion/Duplication Panel
Alzheimer Disease, Familial, Sequencing Panel
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes
Alzheimer Disease, PSEN1 Genetic Analysis, Alzheimer Type 3
Alzheimer Disease, PSEN2 Genetic Analysis, Alzheimer Type 4
Alzheimer Disease, Sequencing APP Gene
Alzheimer Disease, Sequencing Exons (16,17) APP Gene
Alzheimer Disease, Sequencing Exons (4-7) Intron 8 PSEN1 Gene
Alzheimer Disease, Sequencing Exons (5,6,8) PSEN2 Gene
Alzheimer Disease, Sequencing PSEN1 Gene
Alzheimer Disease, Sequencing PSEN2 Gene
Alzheimer disease, type 3 , PSEN1
Alzheimer disease, type 3 - PSEN1
Alzheimer disease-4 , PSEN2
Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel and Copy Number Analysis; 49 genes)
Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 49 genes)
Alzheimer's Disease
Alzheimer's Disease Panel
Alzheimer's Disease, Familial via the PSEN1 Gene
Alzheimer's Disease, Familial via the PSEN2 Gene
Alzheimer: MAPT, CLU, PICALM, CR1 genes screening
Alzheimers disease, early onset AD (sequence analysis of SORL1 gene)
Alzheimers disease, early onset, autosomal dominant
AMACR
AMACR Gene Sequencing
AMACR Gene Sequencing by NGS
AMACR Prenatal Sequence Analysis
AMBN
AMBP
AMDHD2
Amegakaryocytic Thrombocytopenia
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic Thrombocytopenia, Congenital: MPL gene sequence analysis
Amelogenesis imperfecta (Amelogenesis imperfecta)
Amelogenesis imperfecta and related disorders NGS panel
Amelogenesis Imperfecta Deletion/Duplication Panel
Amelogenesis Imperfecta NGS Panel
Amelogenesis Imperfecta Sanger Sequencing Panel
Amelogenesis imperfecta type 1A
Amelogenesis imperfecta type 1B
Amelogenesis imperfecta type 1C
Amelogenesis imperfecta type 1E
Amelogenesis imperfecta type 1G
Amelogenesis imperfecta type 2A1
Amelogenesis imperfecta type 2A2
Amelogenesis imperfecta type 2A3
Amelogenesis imperfecta type 2A4
Amelogenesis imperfecta type 2A5
Amelogenesis imperfecta type 3
Amelogenesis imperfecta type 4
Amelogenesis imperfecta type IIA5 (sequence analysis of SLC24A4 gene)
Amelogenesis imperfecta type III (sequence analysis of FAM83H gene)
Amelogenesis Imperfecta via the AMELX Gene
Amelogenesis Imperfecta via the C4orf26 Gene
Amelogenesis Imperfecta via the DLX3 Gene
Amelogenesis Imperfecta via the ENAM Gene
Amelogenesis Imperfecta via the FAM83H Gene
Amelogenesis Imperfecta via the KLK4 Gene
Amelogenesis Imperfecta via the MMP20 Gene
Amelogenesis Imperfecta via the WDR72 Gene
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene
Amelogenesis Imperfecta, Hypomaturation Type, IIA1 Test
Amelogenesis Imperfecta, Panel Massive Sequencing (NGS) 9 Genes
Amelogenesis Imperfecta, Type IB Test
Amelogenesis Imperfecta, Type IC Test
Amelogenesis imperfecta, type IV (AI4)
Amelogenin test (sex determination)
AMELX
AMER1
AMER1 Sequencing
AMER2
AMER3
AMH
AMHR2
AMICA1
AMIGO1
AMIGO2
AMIGO3
Aminoacylase deficiency
Aminoacylase deficiency (sequence analysis of ACY1 gene)
Aminoacylase Deficiency, Sequencing ACY1 Gene
Aminoacylase-1 Deficiency via the ACY1 Gene
Aminoglycoside-Induced Deafness
Aminoglycoside-induced Hearing Loss
Amish infantile epilepsy syndrome
Amish infantile epilepsy syndrome (sequence analysis of ST3GAL5 gene)
Amish Lethal Microcephaly Test
Amish Nemaline Myopathy (TNNT1 gene) Old Order Amish targeted mutation analysis
Amish Nemaline Myopathy, Sequencing TNNT1 Gene
AML Mutation Panel
AML Mutation Panel - Reflex
AML post-FLT3 Comprehensive Mutation Panel
AMMECR1L
AMN
AMN1
AMOTL1
AMOTL2
AMP deaminase deficiency (Q12X and P48L mutations on AMPD1 gene)
AMP deaminase deficiency (sequence analysis of AMPD1 gene)
AMP deaminase deficiency, erythrocytic
AMPD1
AMPD1 Full Gene Sequencing Analysis
AMPD2
AMPD3
AMPH
Amplification of chromosome 21 (iAMP21)
AMT
AMT Deletion/Duplication Analysis
AMT Familial Mutation/Variant Analysis
AMT Prenatal Sequence Analysis
AMT Sequence Analysis
AMT Sequence and Deletion/Duplication Analysis
AMT-Related Glycine Encephalopathy Test
AMT-Related Glycine Encephalopathy via the AMT Gene
AMTN
AMY2B
Amyloid-related Disorders (NextGen Sequencing Panel and Copy Number Analysis; 18 genes)
Amyloidosis
Amyloidosis (Amyloidose)
Amyloidosis (Amyloidpolyneuropathie)
Amyloidosis (sequence analysis of APOA1 gene)
Amyloidosis caused by mutattion of fibrinogen A alpha chain (FGA) Test
Amyloidosis due to deposits of serum amyloid A1 (SAA1) Test
Amyloidosis due to deposits of transthyretin (TTR) Test
Amyloidosis Transthyretin-related Hereditary, TTR gene
Amyloidosis, familial visceral
Amyloidosis, finnish type
Amyloidosis, finnish type (sequence analysis of GSN gene)
Amyloidosis, hereditary renal (sequence analysis of FGA gene)
Amyloidosis, primary localized cutaneous, type 1
Amyloidosis, primary localized cutaneous, type 2
Amyotrophic lateral sclerosis (Amyotrophe Lateralsklerose)
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies
Amyotrophic Lateral Sclerosis (ALS) Panel
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene
Amyotrophic Lateral Sclerosis (C9orf72 repeat)
Amyotrophic lateral sclerosis (detection of GGGGCC expansion on C9ORF72 gene)
Amyotrophic Lateral Sclerosis (FUS gene)
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 27 Genes)
Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel, Copy Number Analysis, and C9orf72 Repeat Expansion Analysis; 27 Genes)
Amyotrophic Lateral Sclerosis (SOD1 gene)
Amyotrophic Lateral Sclerosis (TARDBP gene)
Amyotrophic Lateral Sclerosis (VCP gene)
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes
Amyotrophic Lateral Sclerosis , Sequencing (SOD1,ANG,TARDBP,FUS) Genes
Amyotrophic Lateral Sclerosis , Sequencing ANG Gene
Amyotrophic Lateral Sclerosis , Sequencing FIG4 Gene
Amyotrophic Lateral Sclerosis , Sequencing FUS (TLS-ALS6) Gene
Amyotrophic Lateral Sclerosis , Sequencing SOD1 Gene
Amyotrophic Lateral Sclerosis , Sequencing TARDBP Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the PFN1 Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the SOD1 Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the TARDBP Gene
Amyotrophic lateral sclerosis 1 (sequence analysis of SOD1 gene)
Amyotrophic lateral sclerosis 10 (sequence analysis of TARDBP gene)
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene)
Amyotrophic lateral sclerosis 15 (sequence analysis of UBQLN2 gene)
Amyotrophic lateral sclerosis 16 (sequence analysis of SIGMAR1 gene)
Amyotrophic lateral sclerosis 17 (sequence analysis of CHMP2B gene)
Amyotrophic lateral sclerosis 18 (sequence analysis of PFN1 gene)
Amyotrophic lateral sclerosis 21 (sequence analysis of MATR3 gene)
Amyotrophic lateral sclerosis 4, juvenile (deletion/duplication analysis of SETX gene)
Amyotrophic lateral sclerosis 4, juvenile (sequence analysis of SETX gene)
Amyotrophic lateral sclerosis 6 (sequence analysis of FUS gene)
Amyotrophic lateral sclerosis 8 (sequence analysis of VAPB gene)
Amyotrophic lateral sclerosis 9 (sequence analysis of ANG gene)
Amyotrophic lateral sclerosis :TARDBP (TDP43) gene sequence analysis
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Deletion/Duplication Panel
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via the CHMP2B Gene
Amyotrophic Lateral Sclerosis Multi-Gene Panel
Amyotrophic Lateral Sclerosis NGS Panel
Amyotrophic Lateral Sclerosis Panel
Amyotrophic lateral sclerosis risk factor
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 12
Amyotrophic lateral sclerosis type 14
Amyotrophic lateral sclerosis type 16
Amyotrophic lateral sclerosis type 17
Amyotrophic lateral sclerosis type 18
Amyotrophic lateral sclerosis type 2
Amyotrophic lateral sclerosis type 2, juvenile
Amyotrophic lateral sclerosis type 2, juvenile (sequence analysis of ALS2 gene)
Amyotrophic lateral sclerosis type 21
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 8
Amyotrophic Lateral Sclerosis Type 8 (ALS8), Sequencing VAPB Gene
Amyotrophic lateral sclerosis type 9
Amyotrophic Lateral Sclerosis via the ANG Gene
Amyotrophic Lateral Sclerosis via the C9orf72 Gene Hexanucleotide Repeat Expansion
Amyotrophic Lateral Sclerosis via the OPTN Gene
Amyotrophic Lateral Sclerosis via the UBQLN2 Gene
Amyotrophic Lateral Sclerosis with Frontotemporal Dementia (FTDALS) , Repeat Expansion GGGGCC C9orf72 Gene
Amyotrophic Lateral Sclerosis, Autosomal Dominant and Autosomal Recessive
Amyotrophic lateral sclerosis, CREST related
Amyotrophic lateral sclerosis, susceptibility to
Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene)
Amyotrophic lateral sclerosis, VPS54 related
Amyotrophic lateral sclerosis, x-linked juvenile and adult-onset ALS
Amyotrophic lateral sclerosis- 10 genes (NGS panel for ALS2, ANG, FIG4, FUS, SETX, SOD1, TARDBP and VAPB gene)
Amyotrophy hereditary neuralgic
Amyotrophy hereditary neuralgic (sequence analysis of SEPT9 gene)
AMZ1
AMZ2
Analysis APC gene (Adenomatous polyposis coli )
Analysis ASPM gene (Primary Autosomal Recessive Microcephaly 5)
Analysis ATP8B1 gene (Intrahepatic Cholestasis)
Analysis BAAT gene (Familial Hypercholanemia)
Analysis BEST1 gene (BEST Macular Dystrophy, Vitreoretinochoroidopathy)
Analysis CABP4 gene (Night Blindness Congenital Stationary 2B)
Analysis CACNA1C gene (Timothy Syndrome, Brugada Syndrome)
Analysis CACNA1F gene (Night Blindness Congenital Stationary 2A X-linked)
Analysis CALM1 gene (Catecholaminergic Polymorphic Ventricular Tachycardia 4)
Analysis Cardiac Arrhythmia Genes (NGS panel 48 Genes)
Analysis CASQ2 gene (Catecholaminergic Polymorphic Ventricular Tachycardia 2)
Analysis CAV3 gene (Long QT Syndrome 9)
Analysis CCBE1 gene (Hennekam Lymphangiectasia-Lymphedema Syndrome 1)
Analysis CDKL5 gene (Early Infantile Epileptic Encephalopathy 2, Angelman syndrome-like)
Analysis CDKN1C gene (Beckwith-Wiedemann Syndrome)
Analysis CENPJ gene (Primary Autosomal Recessive Microcephaly 6)
Analysis CEP290 gene (Leber Congenital Amaurosis 10)
Analysis CFH gene (Basal Laminar Drusen)
Analysis CFP gene (Properdin Deficiency, X-Linked)
Analysis CNGA3 gene (Achromatopsia 2)
Analysis CNGB3 gene (Achromatopsia 3, Juvenile Macular Degeneration)
Analysis CRB1 gene (Leber Congenital Amaurosis 8, Retinitis Pigmentosa 12)
Analysis CYB5R3 (DIA1) gene (Methemoglobinemia type I and type II)
Analysis CYP1B1 gene (Primary Congenital Glaucoma)
Analysis DES gene (Dilated Cardiomyopathy)
Analysis DOCK8 gene (Hyper IgE Syndrome)
Analysis DSC2 gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11)
Analysis DSG2 gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10)
Analysis DSP gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8)
Analysis DUOX2 gene (Thyroid dyshormonogenesis 6)
Analysis DUOXA2 gene (Thyroidale Hypothyroidism)
Analysis Dyslipidemia Genes (NGS panel 29 Genes)
Analysis ELANE gene (Neutropenia)
Analysis ELOVL4 gene (Stargardt Disease 3)
Analysis EMD gene (Emery-Dreifuss Muscular Dystrophy, X-Linked)
Analysis ENPP1 gene (Generalized Arterial Calcification of Infancy)
Analysis EPG5 gene (Vici Syndrome)
Analysis EYS gene (Retinitis Pigmentosa 25)
Analysis F12 gene (Hereditary Angioedema Type III)
Analysis F8 gene (Hemophilia A)
Analysis F8 gene (Inversion 1 and Inversion 22 Test)
Analysis FAT4 gene (Hennekam Lymphangiectasia-Lymphedema Syndrome 2)
Analysis FLT4 gene (Hereditary Lymphedema IA)
Analysis for Intron 1 Inversion in F8 gene
Analysis for Intron 22 Inversion in F8 gene
Analysis FOXC1 gene (Axenfeld Rieger Syndrome)
Analysis FOXC2 gene (Lymphedema-Distichiasis Syndrome)
Analysis FOXE1 gene (Bamforth-Lazarus syndrome )
Analysis FOXG1 gene (Rett Syndrome, Congenital Variant)
Analysis G6PC3 gene (Severe Congenital Neutropenia, Autosomal Recessive, 4)
Analysis GATA4 gene (Congenital Heart Disease/Defects)
Analysis GBA gene (Gaucher Disease)
Analysis GCK gene (Hyperinsulinism, Neonatal Diabetes Mellitus)
Analysis GFI1 gene (Severe Congenital Neutropenia, Autosomal Dominant 2)
Analysis GGCX gene (Pseudoxanthoma Elasticum-like Disorder)
Analysis GJC2 gene (Hereditary Lymphedema IC)
Analysis GLA gene (Fabry Disease)
Analysis GLUD1 gene (Hyperinsulinism)
Analysis GNAS gene (Pseudohypoparathyroidism Type IA)
Analysis GPC3 gene (Simpson-Golabi-Behmel Syndrome 1)
Analysis GPR143 gene (Ocular Albinism I)
Analysis GPR179 gene (Night Blindness Congenital Stationary 1E)
Analysis GRM6 gene (Night Blindness Congenital Stationary 1B)
Analysis HAX1 gene (Severe Congenital Neutropenia, Autosomal Recessive 3)
Analysis HCN4 gene (Sick Sinus Syndrome 2)
Analysis HDAC8 gene (Cornelia de Lange Syndrome 5)
Analysis HESX1 gene (Septooptic Dysplasia, Combined Pituitary Hormone Deficiency 5)
Analysis HEXA gene for Tay-Sachs Disease
Analysis HNF4A gene (Neonatal Diabetes mellitus)
Analysis HOXB13 gene (Prostate Cancer)
Analysis IGSF1 gene (Central Hypothyroidism and Testicular Enlargement)
Analysis INS gene (Neonatal Diabetes Mellitus)
Analysis IYD gene (Thyroid dyshormonogenesis 4)
Analysis JUP gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12)
Analysis KCNE1 gene (Long QT Syndrome 5, Jervell and Lange-Nielsen Syndrome 2)
Analysis KCNE2 gene (Long QT Syndrome 6, Atrial Fibrillation)
Analysis KCNH2 gene (Long QT 2, Short QT 1)
Analysis KCNJ11 gene (Hyperinsulinism, Neonatal Diabetes Mellitus)
Analysis KCNJ2 gene (Andersen Syndrome 1, LQT7, SQT3)
Analysis KCNJ5 gene (Familial Hyperaldosteronism III)
Analysis KCNQ1 gene (LQT1, SQT2, JLNS)
Analysis LAMP2 gene (Danon Disease)
Analysis LHX3 gene (Combined Pituitary Hormone Deficiency 3)
Analysis LHX4 gene (Combined Pituitary Hormone Deficiency 4)
Analysis LIFR Gene (Stuve-Wiedemann syndrome)
Analysis LMNA gene (Dilated Cardiomyopathy, Emery-Dryeifuss Muscular Dystrophy, Partial Lipodystrophy)
Analysis Lymphedema Genes (NGS panel 36 genes)
Analysis MCPH1 gene (Primary Autosomal Recessive Microcephaly 1)
Analysis MECP2 gene (Rett Syndrome, MECP2 Duplication Syndrome, Angelman-like Syndrome)
Analysis MERTK gene (Retinitis Pigmentosa 38)
Analysis Methylation status MEG3-DMR for Paternal UPD14 Syndrome (Kagami-Ogata Syndrome) or Maternal UPD14 Syndrome (Temple Syndrome)
Analysis Methylation status SNRPN gene promoter (Prader-Willi Syndrome or Angelman Syndrome)
Analysis MLH1 gene (Lynch Syndrome)
Analysis MSH2 gene (Lynch Syndrome)
Analysis MSH6 gene (Lynch Syndrome)
Analysis MUTYH gene (MUTYH-Associated Polyposis)
Analysis MYBPC3 gene (Cardiomyopathy, Hypertrophic- Dilated-, Non Compaction- and Restrictive-)
Analysis MYH7 gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Non Compaction Cardiomyopathy)
Analysis MYL2 gene (Familial Hypertrophic Cardiomyopathy)
Analysis MYL3 gene (Familial Hypertrophic Cardiomyopathy)
Analysis MYOC gene (Glaucoma 1a open angle juvenile onset)
Analysis NIPBL gene (Cornelia de Lange Syndrome 1)
Analysis NKX2-1 gene (Choreoathetosis, hypothyroidism, and neonatal respiratory distress)
Analysis NKX2-5 gene (Congenital Heart Defects)
Analysis NPC1 gene (Niemann-Pick Disease, type C)
Analysis NPC2 gene (Niemann-Pick Disease, type C)
Analysis NR2E3 gene (Enhanced S Cone Syndrome, Retinitis Pigmentosa 37)
Analysis NYX gene (Night Blindness Congenital Stationary 1A X-Linked)
Analysis OCA2 gene (Oculocutaneous Albinism)
Analysis of Agammaglobulinemia, X-Linked; XLA
Analysis of Celiac Disease; CD
Analysis of Colorectal Cancer, Hereditary Nonpolyposis, Type 2; HNPCC2
Analysis of Colorectal Cancer, Hereditary Nonpolyposis, Type 4; HNPCC4
Analysis of Colorectal Cancer, Hereditary Nonpolyposis, Type 5; HNPCC5
Analysis of Colorectal Cancer; CRC
Analysis of Familial Adenomatous Polyposis 1; FAP1
Analysis of FMR1 Gene
Analysis of Juvenile Myelomonocytic Leukemia; JMML
Analysis of Leukemia, Acute Myeloid;
Analysis of Lung Cancer
Analysis of Lynch Syndrome I
Analysis of Macroglobulinemia, Waldenstrom, Susceptibility To, 1; WM1
Analysis of Mast Cell Disease
Analysis of Pilomatrixoma
Analysis OPA1 gene (Optic Atrophy)
Analysis OPA3 gene (Optic Atrophy)
Analysis OPTN gene (Glaucoma 1 Open Angle Adult Onset)
Analysis OTX2 gene (Microphthalmia, Pituitary hormone deficiency)
Analysis PAX6 gene (Aniridia)
Analysis PAX8 gene (Congenital Hypothyroidism, Nongoitrous 2)
Analysis PDE6A gene (Retinitis Pigmentosa 43)
Analysis PDE6B gene (Retinitis Pigmentosa 40)
Analysis PITX2 gene (Axenfeld Rieger Syndrome)
Analysis PKP2 gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9)
Analysis PLN gene (Dilated Cardiomyopathy)
Analysis PMS2 gene (Lynch Syndrome)
Analysis PORCN gene (Focal Dermal Hypoplasia or Goltz-Gorlin Syndrome)
Analysis POU1F1 gene (Combined Pituitary Hormone Deficiency 1)
Analysis PRKAG2 gene (Wolff-Parkinson-White Syndrome)
Analysis PRKAR1A gene (Carney Complex 1)
Analysis PROP1 gene (Combined Pituitary Hormone Deficiency 2)
Analysis PRPH2 gene (Macular Dystrophy Patterned, Retinitis Pigmentosa 7)
Analysis PTH1R gene (Chondrodysplasia)
Analysis RASA1 gene (Capillary Malformation - Arteriovenous Malformation)
Analysis RHO gene (Retinitis Pigmentosa 4)
Analysis RP2 gene (X-linked Retinitis Pigmentosa)
Analysis RPE65 gene (Leber Congenital Amaurosis 2, Retinitis Pigmentosa 20)
Analysis RPGR gene (X-linked Retinitis Pigmentosa)
Analysis RS1 gene (Retinoschisis X-linked)
Analysis RYR2 gene - Tier 1 (Catecholaminergic Polymorphic Ventricular Tachycardia)
Analysis RYR2 gene - Tier 2 (Catecholaminergic Polymorphic Ventricular Tachycardia)
Analysis SBDS gene (Shwachman-Diamond Syndrome)
Analysis SCN5A gene (Brugada Syndrome, LQT3, Sick Sinus Syndrome, Familial Heart Block, Cardiomyopathy)
Analysis SERPING1 (C1NH) gene (Hereditary Angioedema types I and II)
Analysis SLC26A4 gene (Pendred Syndrome)
Analysis SLC45A2 gene (Oculocutaneous Albinism)
Analysis SLC5A5 gene (Thyroid Dyshormonogenesis I)
Analysis SMARCA2 gene (Nicolaides-Baraitser Syndrome)
Analysis SMC1A gene (Cornelia de Lange Syndrome 2)
Analysis SOX18 gene (Hypotrichosis-lymphedema-telangiectasia syndrome)
Analysis SOX2 gene (Anophtalmia, Microphtalmia)
Analysis STAT3 gene (Hyper IgE Syndrome)
Analysis STIL gene (Primary Autosomal Recessive Microcephaly 7)
Analysis TBX5 gene (Holt-Oram Syndrome)
Analysis TEK gene (Venous Malformations)
Analysis TG gene (Thyroid Dyshormonogenesis 3)
Analysis THRB gene (Thyroid Hormone Resistance)
Analysis TMEM43 gene (Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5)
Analysis TNNI3 gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Restrictive Cardiomyopathy)
Analysis TNNT2 gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy)
Analysis TPM1 gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy)
Analysis TPO gene (Thyroid dyshormonogenesis 2A)
Analysis TRPM1 gene (Night Blindness Congenital Stationary 1C)
Analysis TRPM4 gene (Progressive Familial Heart Block, Type IB)
Analysis TRPS1 gene (TRP Syndrome 1)
Analysis TSHB gene (Congenital Hypothyroidism)
Analysis TSHR gene (Congenital Hypothyroidism, Hyperthyroidism)
Analysis TTN gene (Familial Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy)
Analysis TTR gene (Familial Transthyretin Amyloidosis)
Analysis TYR gene (Oculocutaneous Albinism)
Analysis TYRP1 gene (Oculocutaneous Albinism)
Analysis UBE3A gene (Angelman Syndrome)
Analysis USH2A gene (Retinitis Pigmentosa 39)
Analysis VEGFC gene (Hereditary Lymphedema ID)
Analysis WAS gene (Neutropenia, Thrombocytopenia , Wiskott-Aldrich Syndrome )
Analysis WDR62 gene (Primary Autosomal Recessive Microcephaly 2)
Analysis WDR73 gene (Galloway-Mowat syndrome)
Analysis WT1 gene (Denys-Drash Syndrome, Frasier Syndrome, Wilms Tumor)
Analysis XYLT1 Gene (Desbuquois dysplasia 2)
ANAPC1
ANAPC10
ANAPC11
ANAPC13
ANAPC15
ANAPC16
ANAPC2
ANAPC4
ANAPC5
ANAPC7
Anauxetic dysplasia
Andermann Syndrome
Andermann Syndrome (SLC12A6)
Andermann Syndrome via the SLC12A6 Gene
Andersen disease
Andersen Disease (Glycogen Storage Disease Type IV), Sequencing GBE1 Gene
Andersen Syndrome Type 1 Test
Andersen-Tawil Syndrome
Andersen-Tawil syndrome (sequence analysis of KCNJ2 gene)
Andersen-Tawil Syndrome Test
Andersen-Tawil Syndrome, Sequencing KCNJ2 Gene
Andersen-Tawil Syndrome/Long QT Syndrome via the KCNJ2 Gene
Androgen insensitivity
Androgen Insensitivity Syndrome
Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene
Androgen Insensitivity Syndrome (AR) Sequencing Test
Androgen insensitivity syndrome (deletion/duplication analysis of AR gene)
Androgen insensitivity syndrome (sequence analysis of AR gene)
Androgen Insensitivity Syndrome Test
Androgen Insensitivity Syndrome, AR
Androgen Insensitivity Syndrome, Deletions-Duplications (MLPA) AR Gene
Androgen Insensitivity Syndrome, Sequencing AR Gene
Androgen Insensitivity Syndrome: Complete
Androgen insensitivity, partial, with or without breast cancer
Androgen receptor (AR) mutation - confirmation, Ex 4-8
Androgen receptor mutation - Ex 1-3
ANE Syndrome, Sequencing RBM28 Gene
Anemia dyserythropoietic type 1A
Anemia dyserythropoietic type 2
Anemia dyserythropoietic type 2 (sequence analysis of SEC23B gene)
Anemia Panel
Anemia with or without neutropenia and/or platelet abnormalities (XLANP, sequence analysis of GATA1 gene)
Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene)
Anemia, neonatal hemolytic, fatal and near-fatal
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Anemia, sideroblastic, with ataxia
Anemia, sideroblastic, X-linked
Anemia, X-linked
ANG
ANG-Related Amyotrophic Lateral Sclerosis Test
ANGEL1
ANGEL2
Angelman Syndrome
Angelman syndrome (Angelman Syndrom)
Angelman syndrome (deletion/duplication analysis of UBE3A gene)
Angelman syndrome (sequence analysis of UBE3A gene)
Angelman Syndrome (UBE3A analysis for a known point mutation)
Angelman Syndrome (UBE3A deletion/duplication analysis)
Angelman Syndrome (UBE3A sequence analysis)
Angelman Syndrome (UBE3A sequence and deletion/duplication analysis)
Angelman Syndrome (UBE3A) Sequencing
Angelman Syndrome and Differential Diagnoses
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive PCR
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Sensitive PCR, Fetal
Angelman Syndrome by Methylation
Angelman Syndrome by methylation PCR
Angelman Syndrome by MS-MLPA
Angelman Syndrome Meth
Angelman Syndrome Methylation Analysis
Angelman Syndrome Methylation Sensitive PCR
Angelman Syndrome Methylation Test
Angelman Syndrome Panel
Angelman Syndrome Prenatal
Angelman Syndrome SEQ UBE3A
Angelman Syndrome SEQ-KFM
Angelman Syndrome Sequencing Test
Angelman Syndrome Test
Angelman Syndrome Test (DNA methylation test - an analysis of the SNRPN locus)
Angelman Syndrome Test, Methylation and Deletion/Duplication Analysis
Angelman Syndrome Tier 2 Panel
Angelman Syndrome via the UBE3A Gene
Angelman Syndrome, Deletions-Duplications (MLPA) UBE3A Gene
Angelman Syndrome, Methylation Analysis
Angelman Syndrome, Methylation and Deletion/Duplication
Angelman Syndrome, Sequencing
Angelman Syndrome, Sequencing UBE3A Gene
Angelman Syndrome, UBE3A, Sequencing
Angelman Syndrome: UBE3A Gene Deletion/Duplication
Angelman Syndrome: UBE3A gene deletions-duplications analysis (MLPA)
Angelman Syndrome: UBE3A Gene Sequencing
Angelman-like syndrome
Angelman-like Syndrome: SLC9A6 Gene Deletion/Duplication
Angelman-like Syndrome: SLC9A6 Gene Sequencing
Angelman/Prader-Willi Methylation Studies
Angelman/Prader-Willi Methylation Studies with reflex to UBE3A gene sequence and deletion/duplication analysis
Angioedema (Angioödem)
Angioedema Type 1 and 2, Hereditary: SERPING1 gene sequence analysis
Angioedema, hereditary
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps (HANAC)
Angiotensinogen Polymorphism
ANGPT1
ANGPT2
ANGPT4
ANGPTL2
ANGPTL3
ANGPTL4
ANGPTL5
ANGPTL7
Anhaptoglobinemia
Anhidrotic ectodermal dysplasia (sequence analysis of EDAR gene)
Anhidrotic ectodermal dysplasia (sequence analysis of EDARADD gene)
ANHX
Aniridia
Aniridia (Aniridie)
Aniridia (deletion/duplication analysis of PAX6 gene)
Aniridia (sequence analysis of PAX6 gene)
Aniridia , Deletions-Duplications (MLPA) PAX6 Gene
Aniridia / WAGR syndrome
Aniridia and Other Eye Malformations Test (the PAX6 gene - entire)
Aniridia Test (microdeletions of the 11p13 region - MLPA analysis)
Aniridia via The PAX6 Gene
Aniridia, Cerebellar Ataxia, And Mental Retardation Test
Aniridia, Sequencing PAX6 Gene
Aniridia: PAX6 gene deletions-duplications analysis (MLPA)
ANK1
ANK1 Deletion/duplication analysis
ANK1 Gene Sequencing
ANK2
ANK2 Gene Sequencing
ANK3
ANKAR
ANKDD1A
ANKDD1B
ANKEF1
ANKFN1
ANKFY1
ANKH
ANKH Deletion/Duplication Analysis
ANKH Familial Mutation/Variant Analysis
ANKH Prenatal Sequence Analysis
ANKH Sequence Analysis
ANKH Sequence and Deletion/Duplication Analysis
ANKHD1
ANKHD1-EIF4EBP3
ANKIB1
ANKK1
ANKLE1
ANKLE2
ANKMY1
ANKMY2
ANKRA2
ANKRD1
ANKRD10
ANKRD11
ANKRD11 Gene Sequencing
ANKRD12
ANKRD13A
ANKRD13B
ANKRD13C
ANKRD13D
ANKRD17
ANKRD18A
ANKRD18B
ANKRD23
ANKRD24
ANKRD26
ANKRD27
ANKRD28
ANKRD30B
ANKRD31
ANKRD33
ANKRD33B
ANKRD34A
ANKRD34B
ANKRD34C
ANKRD35
ANKRD37
ANKRD39
ANKRD40
ANKRD42
ANKRD44
ANKRD45
ANKRD46
ANKRD49
ANKRD50
ANKRD52
ANKRD53
ANKRD54
ANKRD55
ANKRD6
ANKRD61
ANKRD62
ANKRD7
ANKRD9
ANKS1A
ANKS1B
ANKS3
ANKS4B
ANKUB1
Ankyloblepharon-ectodermal defects-cleft lip/palate
Ankylosing Spondylitis (HLA-B27) Genotyping
ANKZF1
ANLN
ANO1
ANO10
ANO2
ANO3
ANO4
ANO5
ANO5-Related Muscle Diseases
ANO5-Related Muscle Diseases Test
ANO6
ANO7
ANO9
Anonychia Congenita Test
Anophthalmia / Microphthalmia Deletion/Duplication Panel
Anophthalmia / Microphthalmia Sequencing Panel
Anophthalmia/Microphthalmia, Sequencing SOX2 Gene
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
ANOS1
ANOS1 Del/Dup
ANOS1 Gene Sequencing
ANOS1 Gene Sequencing and FISH
ANOS1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
ANP32A
ANP32C
ANP32D
ANP32E
ANPEP
Antenatal Bartter Syndrome Type 1 Test
Antenatal Bartter Syndrome Type 1, Sequencing SLC12A1 Gene
Antenatal Bartter Syndrome Type 2 Test
Anterior Segment Dysgenesis
Anterior segment dysgenesis (Anterior Segment Dysgenesis)
Anterior Segment Dysgenesis (Peters Anomaly), Panel Massive Sequencing (NGS) 7 Genes
Anterior Segment Dysgenesis via FOXE3 Gene
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome
Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis (sequence analysis of FOXE3 gene)
Anterior segment mesenchymal dysgenesis (sequence analysis of PITX3 gene)
Anti-Plasmin Deficiency via the SERPINF2 Gene
Antibody Deficiencies Panel
Antidepressants and antipsychotics pharmacogenetics
Antithrombin Deficiency (SERPINC1)
Antithrombin Deficiency via the SERPINC1 Gene
Antithrombin III
Antithrombin III deficiency
Antithrombin III deficiency (sequence analysis of SERPINC1 gene)
Antithrombin III Deficiency Test
Antithrombin-III Deficiency Test
Antitrypsin-alpha-1 deficiency
Antley-Bixler (Ambiguous Genitalia) Syndrome, Sequencing POR Gene
Antley-Bixler (Skeletal Form) Syndrome, Sequencing FGFR2 Gene
Antley-Bixler Like Syndrome Panel
Antley-Bixler Syndrome
Antley-Bixler syndrome test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
ANTXR1
ANTXR2
ANTXRL
ANXA10
ANXA11
ANXA13
ANXA2R
ANXA3
ANXA4
ANXA5
ANXA5 M1/M2 Haplotype
ANXA6
ANXA7
ANXA9
AOAH
AOC1
AOC2
AOC3
Aorta Panel
Aortic aneurysm (Aortenaneurysma)
Aortic aneurysm, ascending, and dissection
Aortic aneurysm, familial thoracic 3 (AAT3)
Aortic aneurysm, familial thoracic 3 (AAT3) Comprehensive Test
Aortic aneurysm, familial thoracic 4 (AAT4)
Aortic aneurysm, familial thoracic 4 (AAT4) Comprehensive Test
Aortic aneurysm, familial thoracic 5 (AAT5)
Aortic aneurysm, familial thoracic 5 (AAT5) Comprehensive Test
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3)
Aortic aneurysm, familial thoracic 5 / 3 (AAT5 / AAT3) Comprehensive Test
Aortic aneurysm, familial thoracic 6 (AAT6)
Aortic aneurysm, familial thoracic 6 (AAT6) Comprehensive Test
Aortic aneurysm, familial thoracic 6 (sequence analysis of ACTA2 gene)
Aortic aneurysm, familial thoracic 7 (AAT7)
Aortic aneurysm, familial thoracic 7 (sequence analysis of MYLK gene)
Aortic aneurysm, familial thoracic 8 (AAT8)
Aortic aneurysm, familial thoracic 8 (AAT8) Comprehensive Test
Aortic Aneurysm, Familial Thoracic 9 (AAT9)
Aortic aneurysm, familial thoracic type 3
Aortic aneurysm, familial thoracic type 4
Aortic aneurysm, familial thoracic type 5
Aortic aneurysm, familial thoracic type 6
Aortic aneurysm, familial thoracic type 7
Aortic aneurysm, familial thoracic type 8
Aortic aneurysm, familial thoracic, MAT2A related
Aortic Aneurysym and Dissection Test (the TGFBR1 and TGFBR2 genes - selected fragments/the most common mutations)
Aortic Valve Disease (NOTCH1) Test
Aortic Valve Disease , Sequencing NOTCH1 Gene
Aortic valve disease 1 (AOVD1)
Aortic valve disease 1 (sequence analysis of NOTCH1 gene)
Aortic valve disease 2 (sequence analysis of SMAD6 gene)
Aortic valve disease type 1
Aortic valve disease type 2
Aortopathies
Aortopathies, Familial
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes
AOX1
AP1B1
AP1G1
AP1G2
AP1M1
AP1M2
AP1S1
AP1S2
AP2A1
AP2A2
AP2B1
AP2M1
AP2S1
AP2S1 Sequencing
AP3B1
AP3B1 Deletion/duplication analysis
AP3B1 Gene Sequencing
AP3B1 Prenatal Sequence Analysis
AP3B2
AP3D1
AP3M1
AP3M2
AP3S1
AP4B1
AP4E1
AP4M1
AP4S1
AP5B1
AP5M1
AP5S1
AP5Z1
APAF1
APBA1
APBA2
APBA3
APBB1
APBB2
APBB3
APC
APC Deletion/Duplication Analysis
APC Gene Analysis
APC Sequencing Plus Deletion/Duplication Screening
APC-Associated Polyposis Conditions
APC-Associated Polyposis Conditions - Deletion/Dup
APC-Associated Polyposis Conditions Test
APC2
APCDD1
APCDD1L
APCS
APEH
Apert Syndrome
Apert Syndrome (FGFR2, p.Ser252Trp and p.Pro253Arg)
Apert syndrome (sequence analysis of FGFR2 gene)
Apert Syndrome Panel
Apert Syndrome Test (the FGFR2 gene - selected fragments/the most common mutations)
Apert Syndrome, Deletions-Duplications (MLPA) FGFR2 Gene
Apert Syndrome, Sequencing FGFR2 Gene
APEX1
APH1A
APH1B
API5
APITD1
Aplasia Cutis Congenita
Aplastic anemia
Aplastic anemia (sequence analysis of IFNG gene)
Aplastic anemia, SBDS related
APLNR
APLP1
APMAP
APOA1
APOA1 Gene Sequencing
APOA1 Sequencing
APOA1-Associated Familial High Density Lipoprotein Deficiency Test
APOA1BP
APOA2
APOA2 Sequencing
APOA4
APOA5
APOB
APOB (R3500Q/R3500W) Sequencing
APOB Gene Sequencing
APOB Polymorphism Detection and Gene Sequencing
APOB Sequencing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
APOBR
APOC1
APOC2
APOC2 Del/Dup
APOC2 Gene Sequencing
APOC2 Sequencing
APOC3
APOC4
APOD
APOE
ApoE Genotyping
APOE Polymorphism
APOE Sequencing
APOF
APOH
APOL1
APOL1 Sequencing
APOL2
APOL3
APOL4
APOL5
APOL6
Apolipoprotein 1, APOL1, Sequencing
Apolipoprotein A-I (APOA1) Gene, Full Gene Analysis
Apolipoprotein A-II (APOA2) Gene, Full Gene Analysis
Apolipoprotein AI (Apo AI) Test
Apolipoprotein B (APOB) Mutation Detection
Apolipoprotein B Deficiency, Mutation (p.Arg3500Gln) APOB Gene
Apolipoprotein B Deficiency, Mutations (p.Arg3500Gln, p.Arg3500Trp,p.His3543Tyr) APOB Gene
Apolipoprotein B Deficiency, Sequencing APOB Gene
Apolipoprotein B deficiency: APOB gene
Apolipoprotein C-II Deficiency
Apolipoprotein C-II deficiency (sequence analysis of APOC2 gene)
Apolipoprotein C-II Deficiency Test
Apolipoprotein E (ApoE)
Apolipoprotein E (APOE) Genotyping
Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk
Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk
Apolipoprotein E deficiency (sequence analysis of APOE gene)
Apolipoprotein E genotyping
Apolipoprotein E, Genotype (PCR)
APOM
APP
APP - Select Exon Sequencing
APP Gene Sequencing
APP Sequencing
Apparent mineralocorticoid excess
Apparent mineralocorticoid excess (sequence analysis of HSD11B2 gene)
Apparent Mineralocorticoid Excess Syndrome Test
Apparent Mineralocorticoid Excess via the HSD11B2 Gene
APPBP2
APPL1
APPL1 Sequencing
APPL2
APRT
APRT Familial Mutation/Variant Analysis
APRT Prenatal Sequence Analysis
APRT Sequence Analysis
APRT Sequencing
APTX
APTX Full Gene Sequencing Analysis
APTX Gene Sequencing by NGS
APTX Prenatal Sequence Analysis
APTX-Related Coenzyme Q10 Deficiency Test
AQP1
AQP10
AQP2
AQP2 Gene Sequencing
AQP2 Sequencing
AQP3
AQP4
AQP5
AQP7
AQP8
AQP9
AR
AR - Androgen Insensitivity Syndrome, complete and partial
AR Del/Dup
AR Gene Detection of Trinucleotide Repeats
AR Gene Sequencing
AR Repeat Analysis
AR Sequencing and Genotyping (Microarray, Beads, etc.)
ARAF
ARAP1
ARAP2
ARAP3
ARC
ARC syndrome test
ARCN1
AREL1
ARF4
ARF6
ARFGAP1
ARFGAP2
ARFGAP3
ARFGEF1
ARFGEF2
ARFGEF3
ARFIP1
ARFIP2
ARFRP1
ARG1
ARG1 Del/Dup
ARG1 Deletion/Duplication Analysis
ARG1 Gene Sequencing
ARG1 Sequence and Deletion/Duplication Analysis
ARG2
ARGFX
Arginase deficiency
Arginase Deficiency (ARG1)
Arginase deficiency (sequence analysis of ARG1 gene)
Arginase Deficiency Test
Arginase Deficiency, ARG1 Prenatal
Arginine-glycine amidinotransferase deficiency
Arginine:Glycine Amidinotransferase
Arginine:Glycine Amidinotransferase (GATM) Deficiency Sequencing
Arginine:glycine amidinotransferase deficiency (sequence analysis of GATM gene)
Argininemia
Argininemia (Arginase Deficiency): Full gene sequencing (Rapid testing)
Argininemia via the ARG1 Gene
Argininemia: ARG1 gene sequence analysis
Argininosuccinate Lyase Deficiency
Argininosuccinate lyase deficiency (sequence analysis of ASL gene)
Argininosuccinate Lyase Deficiency Test
Argininosuccinate Lyase Deficiency via the ASL Gene
Argininosuccinate Lyase Deficiency, Sequencing ASL Gene
Argininosuccinate Lyase Deficiency: ASL Gene Deletion/Duplication
Argininosuccinate Lyase Deficiency: ASL Gene Sequencing
Argininosuccinic aciduria
Argininosuccinic Aciduria, aka Argininosuccinic Acid Lyase Deficiency (ASL)
Argininosuccinic Aciduria-ASL Gene Sequencing
Argininosuccinic aciduria: Full gene sequencing (Rapid testing)
ARGLU1
ARH Gene Sequencing
ARHGAP1
ARHGAP11A
ARHGAP11B
ARHGAP12
ARHGAP15
ARHGAP17
ARHGAP19
ARHGAP20
ARHGAP21
ARHGAP22
ARHGAP24
ARHGAP25
ARHGAP26
ARHGAP27
ARHGAP28
ARHGAP29
ARHGAP30
ARHGAP31
ARHGAP32
ARHGAP33
ARHGAP35
ARHGAP39
ARHGAP40
ARHGAP42
ARHGAP44
ARHGAP5
ARHGAP6
ARHGAP8
ARHGAP9
ARHGDIA
ARHGDIB
ARHGEF1
ARHGEF10
ARHGEF10L
ARHGEF11
ARHGEF12
ARHGEF15
ARHGEF16
ARHGEF17
ARHGEF18
ARHGEF19
ARHGEF2
ARHGEF25
ARHGEF26
ARHGEF28
ARHGEF3
ARHGEF33
ARHGEF37
ARHGEF38
ARHGEF39
ARHGEF4
ARHGEF40
ARHGEF6
ARHGEF7
ARHGEF9
ARHGEF9 Full Gene Sequencing Analysis
ARHGEF9 Gene Sequencing
ARHGEF9-related Hereditary Hyperekplexia: ARHGEF9 Gene Deletion/Duplication
ARHGEF9-related Hereditary Hyperekplexia: ARHGEF9 Gene Sequencing
ARHGEF9-Related Hyperekplexia Test
ARID1A
ARID1B
ARID2
ARID3B
ARID4A
ARID4B
ARID5A
ARID5B
ARIH1
ARIH2
ARL1
ARL11
ARL13A
ARL13B
ARL13B Gene Sequencing
ARL13B-Related Joubert Syndrome Test
ARL14
ARL14EP
ARL14EPL
ARL15
ARL16
ARL2
ARL2BP
ARL3
ARL4A
ARL4D
ARL5B
ARL5C
ARL6
ARL6 Sequencing
ARL6-Related Bardet-Biedl Syndrome Test
ARL6-Related Retinitis Pigmentosa Test
ARL6IP1
ARL6IP5
ARL8A
ARL8B
ARL9
ARMC12
ARMC2
ARMC3
ARMC4
ARMC4 -Primary Ciliary Dyskinesia 23, CILD23
ARMC5
ARMC6
ARMC7
ARMC8
ARMC9
ARMCX1
ARMCX2
ARMCX4
ARMCX5
ARMCX5-GPRASP2
ARMS2
ARMT1
ARNT
ARNT2
ARNTL
Aromatase Deficiency
Aromatase Deficiency (CYP19A1) Sequencing Test
Aromatase deficiency (sequence analysis of CYP19A1)
Aromatase Deficiency, Sequencing CYP19A1 Gene
Aromatic L-amino acid decarboxylase deficiency
Aromatic L-Amino Acid Decarboxylase Deficiency Test
Aromatic L-amino Acid Decarboxylase Deficiency via the DDC Gene
Aromatic L-Amino Acid Decarboxylase Deficiency, Sequencing DDC Gene
ARPC1A
ARPC1B
ARPC2
ARPC3
ARPC4
ARPC4-TTLL3
ARPIN
ARPP19
ARPP21
ARR3
Array SNP-Based Analysis
ARRB1
ARRB2
ARRDC1
ARRDC3
ARRDC4
ARRDC5
Arrhythmia (21 Gene) Panel
Arrhythmia Gene Set
Arrhythmia NGS Panel
Arrhythmia Panel
Arrhythmia, hereditary panel
Arrhythmias: Deletion/Duplication Panel
Arrhythmias: Sequencing Panel
Arrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes
Arrhythmogenic Right Ventricle Dysplasia Type 10, Sequencing DSG2 Gene
Arrhythmogenic Right Ventricle Dysplasia Type 11, Sequencing DSC2 Gene
Arrhythmogenic Right Ventricle Dysplasia Type 12, Sequencing JUP Gene
Arrhythmogenic Right Ventricle Dysplasia Type 8, Sequencing DSP Gene
Arrhythmogenic Right Ventricle Dysplasia Type 9, Sequencing PKP2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Gene Set
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel
Arrhythmogenic right ventricular cardiomyopathy panel
Arrhythmogenic Right Ventricular Cardiomyopathy Test for Known Mutation
Arrhythmogenic right ventricular cardiomyopathy type 1
Arrhythmogenic right ventricular cardiomyopathy type 10
Arrhythmogenic right ventricular cardiomyopathy type 11
Arrhythmogenic right ventricular cardiomyopathy type 12
Arrhythmogenic right ventricular cardiomyopathy type 5
Arrhythmogenic right ventricular cardiomyopathy type 8
Arrhythmogenic right ventricular cardiomyopathy type 9
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and DSP-Related Disorders via the DSP Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSC2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the DSG2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TGFB3 Gene
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the TMEM43 Gene
Arrhythmogenic Right Ventricular CardiomyopathyTest
Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for DSC2, DSG2, DSP, JUP, PKP2, RYR2 and TMEM43 genes)
Arrhythmogenic Right Ventricular Dysplasia (NextGen Sequencing Panel and Copy Number Analysis; 10 genes)
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, NGS panel for DSG2, DSP and PKP2 genes)
Arrhythmogenic right ventricular dysplasia - recessive (ARVD, NGS panel for DSP and JUP genes)
Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) - 12 gene NGS panel
Arrhythmogenic right ventricular dysplasia 1 (sequence analysis of TGFB3 gene)
Arrhythmogenic right ventricular dysplasia 10 (ARVD10, sequence analysis of DSG2 gene)
Arrhythmogenic right ventricular dysplasia 11 (sequence analysis of DSC2 gene)
Arrhythmogenic right ventricular dysplasia 12 (sequence analysis of JUP gene)
Arrhythmogenic right ventricular dysplasia 2 (ARVD, sequence analysis of RYR2 gene)
Arrhythmogenic right ventricular dysplasia 8 (ARVD, sequence analysis of DSP gene)
Arrhythmogenic right ventricular dysplasia 9 (sequence analysis of PKP2 gene)
Arrhythmogenic right ventricular dysplasia type 2
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Multi-Gene Panels
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, NGS Panel (50 genes)
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12 Test
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel
arRP Del/Dup Panel
arRP mutation detection in 28 genes: CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, NR2E3, RDH12, RGR, RLBP1, SAG, TULP1, CRB1, RPE65, USH2A, CLRN1, LRAT, PROM1, RBP3, EYS, ABCA4, AIPL1, CNGA3, CNGB3, GRK1, IMPG2, RHO, and RP1
arRP Sequencing Panel
ARSA
ARSA Del/Dup
ARSA Gene Sequencing
ARSA Gene, Full Gene Analysis
ARSA Prenatal Sequence Analysis (GeneAware)
ARSA-related MLD test
ARSACS
ARSACS Test
ARSB
ARSB Del/Dup
ARSB Familial Mutation/Variant Analysis
ARSB Gene Sequencing
ARSB Prenatal Sequence Analysis
ARSB Sequence Analysis
ARSE
ARSE Del/Dup
ARSE deletion/duplication
ARSE Gene Sequencing
ARSE Gene Sequencing and Del/Dup (Females)
ARSE sequencing
ARSF
ARSG
ARSI
ARSJ
ARSK
ART1
ART3
ART4
ART5
Arterial Calcification Generalized of Infancy, Sequencing ENPP1 Gene
Arterial calcification type 1, generalized, infantile
Arterial calcification type 2, generalized, infantile
Arterial calcification, generalized, of infancy NGS panel
Arterial calcification, generalized, of infancy, 1 (GACI1)
Arterial calcification, generalized, of infancy, 2 (GACI2)
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome (ATS)
Arterial tortuosity syndrome (ATS) via the SLC2A10 gene
Arterial tortuosity syndrome (sequence analysis of SLC2A10 gene)
Arterial Tortuosity Syndrome Test
Arterial Tortuosity Syndrome, Sequencing SLC2A10 Gene
Arterial Tortuosity Test
Arthrogryposes Panel
Arthrogryposis
Arthrogryposis (Arthrogryposis)
Arthrogryposis (DA1, DA1B, DA2A, DA2B, DA7)
Arthrogryposis - Renal Dysfunction - Cholestasis Type 1, Sequencing VPS33B Gene
Arthrogryposis - Renal Dysfunction - Cholestasis Type 2, Sequencing VIPAS39 Gene
Arthrogryposis distal type 2B (sequence analysis of exons 17 and 21 of MYH3 gene)
Arthrogryposis distal type 7 (sequence analysis of MYH8 gene)
Arthrogryposis Multiplex Congenita, Distal, Type 1 Test
Arthrogryposis panel
Arthrogryposis, distal type 1 (sequence analysis of TPM2 gene)
Arthrogryposis, distal type 1B (sequence analysis of MYBPC1 gene)
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene)
Arthrogryposis, distal type 2B (sequence analysis of TNNI2 gene)
Arthrogryposis, distal type 2B (sequence analysis of TNNT3 gene)
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 1B
Arthrogryposis, distal, type 2A
Arthrogryposis, Distal, Type 2A Test
Arthrogryposis, distal, type 2B
Arthrogryposis, Distal, Type 2B: TNNI2 Gene Deletion/Duplication
Arthrogryposis, Distal, Type 2B: TNNI2 Gene Sequencing
Arthrogryposis, distal, type 3
Arthrogryposis, distal, type 5
Arthrogryposis, distal, type 5D
Arthrogryposis, distal, type 7
Arthrogryposis, distal, type 9
Arthrogryposis, mental retardation and seizures (sequence analysis of SLC35A3 gene)
Arthrogryposis, Mental Retardation, and Seizures
Arthrogryposis, renal dysfunction and cholestasis 1 (sequence analysis of VPS33B gene)
Arthrogryposis, renal dysfunction, and cholestasis type 1
Arthrogryposis, renal dysfunction, and cholestasis type 2
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VPS33B Gene
Arthrogryposis-Renal Dysfunction-Cholestasis NGS Panel
Arthropathy, progressive pseudorheumatoid of childhood (sequence analysis of WISP3 gene)
Arthropathy, progressive pseudorheumatoid, of childhood
Arts Syndrome
ARV1
ARVC Del/Dup Panel
ARVC Sequencing Panel
ARVCF
ARVDNext - Arrhythmogenic Right Ventricular Dysplasia Panel
ARX
ARX Del/Dup
ARX deletion/duplication
ARX gene (deletion/duplication analysis)
ARX gene (sequence analysis)
ARX Gene Sequence and Deletion/Duplication Analysis
ARX Related Disorders Comprehensive
ARX Related Disorders Deletion/Duplication KFM
ARX Related Disorders Deletion/Duplication Prenatal
ARX Related Disorders Prenatal
ARX Related Disorders SEQ
ARX Related Disorders-KFM
ARX sequencing
ARX-related disorder test
ARX-Related Disorders Test
ARX-related Disorders: ARX Gene Deletion/Duplication
ARX-related Disorders: ARX Gene Sequencing
Arylsulfatase A Deficiency
Arylsulfatase A Deficiency Test
Arylsulfatase A Deficiency Test (ARSA), Sequencing
AS3MT
ASAH1
ASAP2
ASAP3
ASB1
ASB10
ASB12
ASB13
ASB14
ASB15
ASB16
ASB17
ASB2
ASB3
ASB4
ASB5
ASB7
ASB8
ASCC1
ASCC2
ASCC3
ASCL1
ASCL1 Gene Sequencing
ASCL3
ASCL4
ASF1A
ASF1B
ASGR1
ASGR2
ASH1L
ASH2L
Ashkenazi Jewish (BRCA1 and BRCA2) 3 Mutations
Ashkenazi Jewish Carrier Multi-Gene Panel
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel
Ashkenazi Jewish Carrier Screening
Ashkenazi Jewish Carrier Screening Panel: DNA Only
Ashkenazi Jewish Diseases, 16 Genes
Ashkenazi Jewish genetic disease panel
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
Ashkenazi Jewish Screening Panel
Ashkenazi Jewish: BRCA Targeted Mutation Panel
Ashkenazic Disease Screen
ASIC1
ASIC3
ASIC4
ASIC5
ASIP
Askenazi Jewish Carrier Multi-Gene Panel
ASL
ASL Del/Dup
ASL Gene Sequencing
ASL Prenatal Sequence Analysis (GeneAware)
ASL Sequencing
ASNA1
ASNS
ASNSD1
ASPA
ASPA Del/Dup
ASPA Gene Sequencing and Del/Dup
ASPA Prenatal Sequence Analysis (GeneAware)
Asparagine Synthetase Deficiency
Asparaginesynthetase deficiency
Asparaginesynthetase deficiency (sequence analysis of ASNS gene)
Aspartoacylase (ASPA) Deficiency Test
Aspartylglucosaminuria
Aspartylglucosaminuria (AGA)
Aspartylglucosaminuria via the AGA Gene
Aspartylglucosaminuria: AGA Gene Sequencing
Aspartylglycosaminuria
Aspartylglycosaminuria Test
Asperger syndrome susceptibility X-linked type 2
Asperger syndrome, X-linked (deletion/duplication analysis on NLGN4X gene)
Asperger syndrome, X-linked 1 (sequence analysis of NLGN3 gene)
Asperger syndrome, X-linked 2 (sequence analysis of NLGN4X gene)
ASPG
ASPH
ASPHD2
Asphyxiating thoracic dystrophy (sequence analysis of DYNC2H1 and IFT80 genes)
Asphyxiating thoracic dystrophy 2 (sequence analysis of IFT80 gene)
Asphyxiating Thoracic Dystrophy 2 Test
Asphyxiating thoracic dystrophy 3 (sequence analysis of DYNC2H1 gene)  
Asphyxiating Thoracic Dystrophy 3 Test
Asphyxiating thoracic dystrophy 4 (sequence analysis of TTC21B gene)
Asphyxiating thoracic dystrophy 5 (sequence analysis of WDR19 gene)
Asphyxiating Thoracic Dystrophy Type 2, Sequencing IFT80 Gene
Asphyxiating Thoracic Dystrophy Type 3, Sequencing DYNC2H1 Gene
Asphyxiating Thoracic Dystrophy Type 4, Sequencing TTC21B Gene
Asphyxiating Thoracic Dystrophy Type 5, Sequencing WDR19 Gene
Asphyxiating Thoracic Dystrophy, Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes
ASPM
ASPM deletion/duplication
ASPM Gene Sequencing
ASPM sequencing
ASPN
ASPRV1
ASPSCR1
ASRGL1
ASS1
ASS1 Gene Sequencing
ASS1 Prenatal Sequence Analysis (GeneAware)
ASS1 Sequencing
ASTE1
Asthma (ADRB2 Genotype Assay for R16G)
Asthma Susceptibility to, Panel Massive Sequencing (NGS) 11 Genes
Asthma Susceptibility to, Sequencing TNF Gene
Asthma, susceptibility to (Anfälligkeit für bronchiales Asthma)
Asthma, Susceptibility to Test
ASTL
ASTN1
ASTN2
ASUN
ASXL1
ASXL1 Mutation Analysis
ASXL2
ASXL3
ATAD2
ATAD2B
ATAD3C
ATAD5
ATAT1
Ataxia
Ataxia and Differential Diagnoses Panel
Ataxia and muscle hypotonia
Ataxia Exome Panel
Ataxia Panel
Ataxia Related Disorders, Panel Massive Sequencing (NGS) 36 Genes
Ataxia Research
Ataxia Telangiectasia
Ataxia telangiectasia (sequence analysis of ATM gene)
Ataxia telangiectasia like disorder
Ataxia telangiectasia like disorder (sequence analysis of MRE11A gene)
Ataxia telangiectasia Syndrome via the ATM Gene
Ataxia Type Friedreich with Vitamin E Deficiency, Sequencing TTPA Gene
Ataxia with isolated vitamin E deficiency (sequence analysis of TTPA gene)
Ataxia with oculomotor apraxia (sequence analysis of APTX gene)
Ataxia with Oculomotor Apraxia 1 Test
Ataxia with Oculomotor Apraxia 2 Test
Ataxia with Oculomotor Apraxia Deletion/Duplication Panel
Ataxia with Oculomotor Apraxia Sequencing Panel
Ataxia with Oculomotor Apraxia Type 1, Deletions-Duplications (MLPA) APTX Gene
Ataxia with Oculomotor Apraxia Type 1, Sequencing APTX Gene
Ataxia with Oculomotor Apraxia Type 1/2 NGS Panel
Ataxia with Oculomotor Apraxia Type 2, Deletions-Duplications (MLPA) SETX Gene
Ataxia with Oculomotor Apraxia Type 2, Sequencing SETX Gene
Ataxia with Oculomotor Apraxia Type 2: SETX gene sequence analysis
Ataxia with Oculomotor Apraxia Type 2: SETX Gene Sequencing
Ataxia with Oculomotor Apraxia, Panel Massive Sequencing (NGS) APTX,SETX,PIK3R5 Genes
Ataxia with Vitamin E Deficiency
Ataxia with Vitamin E Deficiency Test
Ataxia with vitamin E deficiency: TTPA gene
Ataxia with Vitamin E deficiency: TTPA gene mutation analysis (744delA)
Ataxia with Vitamin E deficiency: TTPA gene sequence analysis
Ataxia, autosomal dominant and X-linked Panel
Ataxia, autosomal recessive and X-linked Panel
Ataxia, Autosomal Recessive – Basic Diagnostics
Ataxia, posterior column, with retinitis pigmentosa
Ataxia, posterior column, with retinitis pigmentosa (sequence analysis of FLVCR1 gene)
Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related
Ataxia, with oculomotor apraxia (Ataxie mit okulomotorischer Apraxie)
Ataxia, with oculomotor apraxia (Ataxie-okulomotorische Apraxie)
Ataxia-ocular apraxia 2 (AOA2, sequence analysis of SETX gene)
Ataxia-oculomotor apraxia 1 (AOA1, deletion/duplication analysis of APTX gene)
Ataxia-oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 2
Ataxia-oculomotor apraxia type 3
Ataxia-oculomotor apraxia type 3 (sequence analysis of PIK3R5 gene)
Ataxia-oculomotor apraxia type 4
Ataxia-Telangiectasia
Ataxia-Telangiectasia (ATM)
Ataxia-telangiectasia (deletion/duplication analysis of ATM gene)
Ataxia-Telangiectasia Test
Ataxia-Telangiectasia, Deletions-Duplications (MLPA) ATM Gene
Ataxia-Telangiectasia, Panel Massive Sequencing (NGS) ATM, ATR, MRE11 Genes
Ataxia-Telangiectasia, Sequencing ATM Gene
Ataxia-telangiectasia-like disorder via the MRE11/MRE11A Gene
Ataxia-Telangiectasia-Like Disorder, Sequencing MRE11 Gene
Ataxia-Vanishing White Matter Syndrome EIF2B5 SEQU
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA)
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis)
ATCAY
ATE1
Atelosteogenesis type 1
Atelosteogenesis Type 1, Sequencing Exons (2-5) FLNB Gene
Atelosteogenesis type 2 (AO2) via the SLC26A2 Gene
Atelosteogenesis Type 2 (SLC26A2)
Atelosteogenesis Type 2, Sequencing SLC26A2 Gene
Atelosteogenesis type 3
Atelosteogenesis Type 3, Sequencing Exons (2-5, 13, 27-33) FLNB Gene
Atelosteogenesis type II, AO2
Atelosteogenesis, Type I / III (AOI / AOIII)
Atelosteogenesis, type II (AOII)
ATF1
ATF2
ATF3
ATF4
ATF5
ATF6
ATF6B
ATF7
ATF7IP
ATF7IP2
ATG10
ATG101
ATG13
ATG14
ATG16L1
ATG16L2
ATG2A
ATG2B
ATG4B
ATG5
ATG7
ATG9A
Athabaskan brainstem dysgenesis syndrome
Athabaskan brainstem dysgenesis syndrome (sequence analysis of HOXA1 gene)
ATHL1
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate (FOXE1) Test
ATIC
ATL1
ATL1/SPG3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
ATL1/SPG3 MLPA Duplication/Deletion Analysis
ATL2
ATL3
ATM
ATM Deletion/duplication analysis
ATM Gene Sequencing
ATM Prenatal Sequence Analysis (GeneAware)
ATN1
ATN1 Gene Detection of Trinucleotide Repeats
ATOH7
ATOH8
Atopic Dermatitis 2 Test (the FLG gene - analysis of the two most common mutations)
Atopic Dermatitis/ Ichthyosis Vulgaris, Mutations (p.R501X, c.2282del4) FLG Gene
Atopic Dermatitis/Ichthyosis Vulgaris, Sequencing FLG Gene
ATOX1
ATP10A
ATP10B
ATP10D
ATP11A
ATP11B
ATP12A
ATP13A1
ATP13A2
ATP13A2 Gene Sequencing
ATP13A2-Related Neuronal Ceroid-Lipofuscinosis Test
ATP13A3
ATP13A4
ATP13A5
ATP1A1
ATP1A2
ATP1A2 Full Gene Sequencing Analysis
ATP1A2 Gene Sequencing
ATP1A2 MLPA Duplication/Deletion Analysis
ATP1A2-Related Alternating Hemiplegia of Childhood
ATP1A2-Related Alternating Hemiplegia of Childhood Test
ATP1A3
ATP1A3 Gene Sequencing
ATP1A3 sequencing
ATP1A3-Related Alternating Hemiplegia of Childhood Test
ATP1A4
ATP1B1
ATP1B2
ATP1B3
ATP23
ATP2A1
ATP2A2
ATP2A2 Del/Dup
ATP2A2 Gene Sequencing
ATP2A3
ATP2B1
ATP2B2
ATP2B3
ATP2B4
ATP2C1
ATP2C1 Gene Sequencing
ATP2C2
ATP4A
ATP4B
ATP5A1
ATP5A1 Deletion/Duplication Analysis
ATP5A1 Familial Mutation/Variant Analysis
ATP5A1 Prenatal Sequence Analysis
ATP5A1 Sequence Analysis
ATP5A1 Sequence and Deletion/Duplication Analysis
ATP5B
ATP5C1
ATP5E
ATP5E Deletion/Duplication Analysis
ATP5E Full Gene Sequencing Analysis
ATP5E KFM Sequence Analysis
ATP5E Prenatal Sequence Analysis
ATP5E Sequence Analysis
ATP5E Sequence and Deletion/Duplication Analysis
ATP5F1
ATP5G1
ATP5G2
ATP5G3
ATP5I
ATP5J
ATP5J2
ATP5J2-PTCD1
ATP5L2
ATP5O
ATP5S
ATP5SL
ATP6AP1
ATP6AP1L
ATP6AP2
ATP6V0A1
ATP6V0A2
ATP6V0A2 Gene Sequencing by Massively Parallel Sequencing
ATP6V0A2 Prenatal Sequence Analysis
ATP6V0A2 Sequence analysis
ATP6V0A4
ATP6V0A4 Gene Sequencing
ATP6V0A4 Sequencing
ATP6V0B
ATP6V0C
ATP6V0D1
ATP6V0E1
ATP6V1A
ATP6V1B1
ATP6V1B1 Deletion/duplication analysis
ATP6V1B1 Gene Sequencing
ATP6V1B1 Sequencing
ATP6V1B2
ATP6V1C1
ATP6V1C2
ATP6V1D
ATP6V1E1
ATP6V1E2
ATP6V1F
ATP6V1G1
ATP6V1G2
ATP6V1G3
ATP6V1H
ATP7A
ATP7A deletion/duplication
ATP7A Deletion/Duplication Analysis
ATP7A Familial Mutation/Variant Analysis
ATP7A Prenatal Sequence Analysis
ATP7A Sequence Analysis
ATP7A Sequence and Deletion/Duplication Analysis
ATP7A sequencing
ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication
ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing
ATP7A-Related Copper Transport Disorders Test
ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication
ATP7B
ATP7B deletion/duplication
ATP7B Deletion/Duplication Analysis
ATP7B Familial Mutation/Variant Analysis
ATP7B Gene Sequencing
ATP7B mutation screen (Wilson disease)
ATP7B Prenatal Sequence Analysis
ATP7B Prenatal Sequence Analysis (GeneAware)
ATP7B Sequence Analysis
ATP7B Sequence and Deletion/Duplication Analysis
ATP7B sequencing
ATP8A1
ATP8A2
ATP8B1
ATP8B1 Deletion/Duplication Analysis
ATP8B1 Familial Mutation/Variant Analysis
ATP8B1 Gene Sequencing
ATP8B1 Prenatal Sequence Analysis
ATP8B1 Sequence Analysis
ATP8B1 Sequence and Deletion/Duplication Analysis
ATP8B1-related Intrahepatic cholestasis
ATP8B1-Related Intrahepatic Cholestasis Test
ATP8B2
ATP8B3
ATP8B4
ATP9B
ATPAF2
ATPAF2 Deletion/Duplication Analysis
ATPAF2 Full Gene Sequencing Analysis
ATPAF2 KFM Sequence Analysis
ATPAF2 Prenatal Sequence Analysis
ATPAF2 Sequence Analysis
ATPAF2 Sequence and Deletion/Duplication Analysis
ATPIF1
ATR
ATR Gene Sequencing
ATRAID
Atransferrinemia Test (TF gene)
Atransferrinemia, Sequencing TF Gene
Atrial Fibrillation and Short QT Syndrome Panel
Atrial Fibrillation NGS Panel
Atrial Fibrillation Panel
Atrial Fibrillation Syndrome via the KCNA5 Gene
Atrial Fibrillation Syndrome via the KCNE5 Gene
Atrial Fibrillation Syndrome via the MYL4 Gene
Atrial Fibrillation Syndrome via the NPPA Gene
Atrial fibrillation type 10
Atrial fibrillation type 11
Atrial fibrillation type 12
Atrial fibrillation type 3
Atrial fibrillation type 4
Atrial fibrillation type 6
Atrial fibrillation type 7
Atrial Fibrillation via the GJA5 Gene
Atrial Fibrillation via the SCN2B Gene
Atrial fibrillation, familial 11 (sequence analysis of GJA5 gene)
Atrial fibrillation, familial 6 (sequence analysis of NPPA gene)
Atrial fibrillation, familial 7 (sequence analysis of KCNA5 gene)
Atrial septal defect 3 (sequence analysis of MYH6 gene)
Atrial Septal Defect 5 Test
Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene)
Atrial septal defect 9 (sequence analysis of GATA6 gene)
Atrial septal defect type 2
Atrial septal defect type 2 (sequence analysis of GATA4 gene)
Atrial septal defect type 3
Atrial septal defect type 4
Atrial septal defect type 5
Atrial septal defect type 8
Atrial septal defect type 9
Atrial septal defect with atrioventricular conduction defects
Atrial Septal Defect with Atrioventricular Condutcion Defects Test (the NKX2-5 gene - entire)
Atrichia with papular lesions
Atrichia with Papular Lesions, Sequencing HR Gene
Atrioventricular (AV) Block Panel
Atrioventricular septal defect 3 (sequence analysis of GJA1 gene)
Atrioventricular Septal Defect Type 4, Sequencing GATA4 Gene
Atrioventricular septal defect type 5
Atrioventricular septal defect, partial with heterotaxy syndrome
Atrioventricular septal defect, partial with heterotaxy syndrome (sequence analysis of CRELD1 gene)
ATRIP
ATRN
ATRNL1
ATRX
ATRX Deletion/duplication analysis
ATRX Gene Sequencing
Attention deficit-hyperactivity disorder
Attention deficit-hyperactivity disorder (sequence analysis of DRD4 gene)
ATXN1
ATXN1 Gene Detection of Trinucleotide Repeats
ATXN1 Test
ATXN10
ATXN1L
ATXN2
ATXN2 Gene Detection of Trinucleotide Repeats
ATXN2 Test
ATXN2L
ATXN3
ATXN3 Gene Detection of Trinucleotide Repeats
ATXN3 Test
ATXN3L
ATXN7
ATXN7 Gene Detection of Trinucleotide Repeats
ATXN7 Test
ATXN7L1
ATXN7L2
ATXN7L3
ATXN7L3B
ATXN8OS
Atypical Ehlers-Danlos Syndrome Spotlight Panel
Atypical glycine encephalopathy (deletion/duplication analysis of GLDC gene)
Atypical glycine encephalopathy (sequence analysis of GLDC gene)
Atypical Hemolytic Uremic syndrome
Atypical hemolytic uremic syndrome (NGS panel for 14 genes)
Atypical Hemolytic Uremic Syndrome , Sequencing CD46 (MCP) Gene
Atypical Hemolytic Uremic Syndrome , Sequencing CFB Gene
Atypical hemolytic uremic syndrome 4 (sequence analysis of CFB gene)
Atypical hemolytic uremic syndrome panel
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel
Atypical Hemolytic Uremic Syndrome, Deletions-Duplications (MLPA) CD46 (MCP) Gene
Atypical Hemolytic Uremic Syndrome, Deletions-Duplications (MLPA) CFH Gene
Atypical Hemolytic Uremic Syndrome, Deletions-Duplications (MLPA) CFI Gene
Atypical Hemolytic Uremic Syndrome, Panel Massive Sequencing (NGS) 10 Genes
Atypical Hemolytic Uremic Syndrome, Sequencing C3 Gene
Atypical Hemolytic Uremic Syndrome, Sequencing CFH Gene
Atypical Hemolytic Uremic Syndrome, Sequencing CFI Gene
Atypical Hemolytic Uremic Syndrome, Sequencing Exons (18-22) CFH (HF1) Gene
Atypical Hemolytic Uremic Syndrome, Sequencing THBD Gene
Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome (sequence analysis of CFI gene)
Atypical hemolytic-uremic syndrome (sequence analysis of DGKE gene)
Atypical Hemolytic-Uremic Syndrome and Nephrotic Syndrome via the DGKE Gene
Atypical hemolytic-uremic syndrome with anti-factor H antibodies (sequence analysis of CFHR5 gene)
Atypical Mycobacterial infection
Atypical Mycobacterial infection, IL12RB2 related
Atypical mycobacteriosis, susceptibility to (sequence analysis of IL12B gene)
Atypical Parkinson Syndrome Panel
Atypical Rett Panel (MECP2, ARX, CDKL5 sequence and deletion/duplication analysis)
Atypical Rett Syndrome Test
Atypical Rett Syndrome/X-linked Infantile Spasms (CDKL5 analysis for a known point mutation)
Atypical Rett Syndrome/X-linked Infantile Spasms (CDKL5 deletion/duplication analysis)
Atypical Rett Syndrome/X-linked Infantile Spasms (CDKL5 sequence analysis)
Atypical Rett Syndrome/X-linked Infantile Spasms (CDKL5 sequence and deletion/duplication analysis)
Atypical Rett Syndrome: CDKL5 Gene Deletion/Duplication
Atypical Rett Syndrome: CDKL5 Gene Sequencing
Atypical Werner Syndrome
Atypical Werner Syndrome Test
Auditory neuropathy 1 AD (sequence analysis of DIAPH3 gene)
Auditory neuropathy, autosomal dominant
AUH
AUH Del/Dup
AUH Deletion/Duplication Analysis
AUH Familial Mutation/Variant Analysis
AUH Gene Sequencing
AUH Prenatal Sequence Analysis
AUH Sequence Analysis
AUH Sequence and Deletion/Duplication Analysis
AUNIP
AUP1
Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene)
Auriculocondylar Syndrome 2 Test
Auriculocondylar syndrome type 1
Auriculocondylar syndrome type 2
AURKA
AURKB
AURKC
Autism (Autismus)
Autism NGS Panel
Autism Panel: Complete Tier 1
Autism Panel: Tier 1 Cytogenetic and Molecular
Autism Panel: Tier 2
Autism spectrum disorder
Autism Spectrum Disorder Panel
Autism Spectrum Disorders (ASD) via the NLGN4X Gene
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Panel
Autism Spectrum Disorders Panel
Autism Spectrum Disorders Panel Test
Autism Spectrum Disorders Test
Autism Spectrum Disorders via the KMT5B (SUV420H1) Gene
Autism Spectrum Disorders via the TRIP12 Gene
Autism Spectrum Disorders, Panel Massive Sequencing (NGS) 28 Genes
Autism Spectrum Disorders: Deletion/Duplication Panel
Autism Spectrum Disorders: Gene Panel
Autism Spectrum Test (the FOXP1 gene - the most common mutations)
Autism spectrum, MXRA5 related
Autism spectrum/ hyperactivity/ bipolar disorder, GRM7 related
Autism susceptibility 17 (sequence analysis of SHANK2 gene)
Autism susceptibility, X-linked type 1
Autism susceptibility, X-linked type 17
Autism susceptibility, X-linked type 2
Autism susceptibility, X-linked type 3
Autism susceptibility, X-linked type 4
Autism susceptibility, X-linked type 5
Autism susceptibility, X-linked type 5 (sequence analysis of RPL10 gene)
Autism Test (analysis of three chromosomal regions: 15q11-15q13; 16p11; 22q13 - SHANK3 gene ) MLPA analysis
Autism, ATP1B4 related
Autism, AVPR1A related
Autism, CELF6 related
Autism, FAAH2 related
Autism, FCRL6 related
Autism, GYG2 related
Autism, IQCE related
Autism, MBD1 related
Autism, NTNG1 related
Autism, OR13H1 related
Autism, OXTR related
Autism, RNF128 related
Autism, RRM1 related
Autism, SETD2 related
Autism, UNC13B related
Autism/Mental retardation/Angelman syndrome, susceptibility to, ATP10A related
AutismFirst (Autism Spectrum Disorders)
AutismNext (Autism Spectrum Disorders)
Auto-inflammatory disorders - recurrent inflammation (NGS panel of 3 genes)
Auto-inflammatory disorders � all subtypes (NGS panel of 18 genes)
Auto-inflammatory disorders � other auto-inflammatory disorders (NGS panel of 3 genes)
Auto-inflammatory disorders � sterile inflammation (NGS panel of 9 genes)
Auto-inflammatory disorders � systemic inflammation with urticaria rash (NGS panel of 3 genes)
Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome Panel
Autoimmune lymphoproliferative syndrome (sequence analysis of CTLA4 gene)
Autoimmune lymphoproliferative syndrome (sequence analysis of FAS gene)
Autoimmune lymphoproliferative syndrome (sequence analysis of FASLG gene)
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel
Autoimmune lymphoproliferative syndrome panel
Autoimmune lymphoproliferative syndrome type 1A
Autoimmune lymphoproliferative syndrome type 1B
Autoimmune lymphoproliferative syndrome type 2A
Autoimmune lymphoproliferative syndrome type 2B
Autoimmune lymphoproliferative syndrome type 3
Autoimmune Lymphoproliferative Syndrome Type IA, Sequencing FAS Gene
Autoimmune Lymphoproliferative Syndrome Type IB, Sequencing FASLG Gene
Autoimmune lymphoproliferative syndrome type II (sequence analysis of CASP10 gene)
Autoimmune Lymphoproliferative Syndrome Type II, Sequencing CASP10 Gene
Autoimmune Lymphoproliferative Syndrome Type IIB, Sequencing CASP8 Gene
Autoimmune Lymphoproliferative Syndrome Type V, Sequencing CTLA4 Gene
Autoimmune Lymphoproliferative Syndrome via the FAS Gene
Autoimmune Lymphoproliferative Syndrome: FAS gene (TNFRSF6)
Autoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene)
Autoimmune Polyendocrinopathy Syndrome Type 1
Autoimmune Polyendocrinopathy Syndrome Type 1 Test
Autoimmune Polyendocrinopathy Syndrome Type 1 via the AIRE Gene
Autoimmune Polyendocrinopathy Syndrome Type 1, Sequencing AIRE Gene
Autoimmune Polyendocrinopathy Type 1 AIRE SEQEUNCI
Autoinflammation, lipodystroph and dermatosis syndrome
Autoinflammation, lipodystrophy and dermatosis syndrome (sequence analysis of PSMB8 gene)
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome Test
Autoinflammatory Diseases Panel
Autoinflammatory Disorders Spotlight Panel
Autoinflammatory Syndrome Panel
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy, Deletions-Duplications (MLPA) LMNB1 Gene
Autosomal Dominant and Recessive Cutis Laxa, Panel Massive Sequencing (NGS) 13 Genes
Autosomal Dominant and Recessive Polycystic Kidney Disease Deletion/Duplication Panel
Autosomal Dominant and Recessive Polycystic Kidney Disease Sequencing Panel
Autosomal Dominant Centronuclear Myopathy , Sequencing DNM2 Gene
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene
Autosomal Dominant Cone-rod Dystrophy via the RIMS1 Gene
Autosomal Dominant Cutis Laxa, Deletions-Duplications (MLPA) ELN Gene
Autosomal Dominant Cutis Laxa, Sequencing ELN Gene
Autosomal dominant deafness Type 2B: Full gene sequencing (Rapid testing)
Autosomal dominant deafness Type 3A: Full gene sequencing (Rapid testing)
Autosomal dominant deafness Type 3B: Full gene sequencing (Rapid testing)
Autosomal Dominant Dopa-Responsive Dystonia, Sequencing GCH1 Gene
Autosomal Dominant Enery-Dreifuss Muscular Dystrophy Type 2 , Sequencing LMNA Gene
Autosomal Dominant Familial Periodic Fever
Autosomal Dominant Familial Periodic Fever (TRAPS): TNFRSF1A gene
Autosomal Dominant Familial Periodic Fever Test
Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes
Autosomal Dominant Familial Temporal Lobe Epilepsy 1
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 27 Genes
Autosomal Dominant Hyper IgE Syndrome
Autosomal Dominant Hyper IgE Syndrome Test
Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene
Autosomal Dominant Hypercholesterolemia Test (the APOB gene-analysis of the R3500Q, R3531C, H3543Y mutations; the LDLR gene-analysis of the G571E mutation)
Autosomal Dominant Hypocalcemia , Sequencing CASR Gene
Autosomal Dominant Hypocalcemia Type 2, Sequencing GNA11 Gene
Autosomal Dominant Hypophosphatemic Rickets , Sequencing FGF23 Gene
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E, Sequencing INF2 Gene
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease, Sequencing DNM2 Gene
Autosomal Dominant Larsen Syndrome, Sequencing Exons ( 2-5, 27-33) FLNB Gene
Autosomal Dominant Larsen Syndrome, Sequencing FLNB Gene
Autosomal Dominant Limb-Girdle Muscular Dystrophy (LGMD) Deletion/Duplication Panel
Autosomal Dominant Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 4 Genes
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E (LGMD1E) via the DNAJB6 Gene
Autosomal Dominant Mental Retardation 1: MBD5 Gene Deletion/Duplication
Autosomal Dominant Mental Retardation 1: MBD5 Gene Sequencing
Autosomal Dominant Mental Retardation Type 13, Sequencing DYNC1H1 Gene
Autosomal Dominant Mental Retardation, Panel Massive Sequencing (NGS) 31 Genes
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 Gene
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNB2 Gene
Autosomal Dominant Non Syndromic Intellectual Disability Type 5, Sequencing SYNGAP1 Gene
Autosomal Dominant Nonsyndromic Sensorineural Deafness Type 9 , Sequencing COCH Gene
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene
Autosomal Dominant Optic Atrophy (Kjer Type): OPA1 Gene Deletion/Duplication
Autosomal Dominant Optic Atrophy (Kjer Type): OPA1 Gene Sequencing
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene
Autosomal Dominant Optic Atrophy: OPA3 Gene Deletion/Duplication
Autosomal Dominant Optic Atrophy: OPA3 Gene Sequencing
Autosomal Dominant Osteogenesis Imperfecta (OI) Multi-Gene Panel
Autosomal Dominant Osteopetrosis Type 1 , Sequencing LRP5 Gene
Autosomal Dominant Osteopetrosis Type 2, Sequencing CLCN7 Gene
Autosomal Dominant Partial Epilepsy with Auditory Features Test
Autosomal dominant persistent hypermethioninemia due to methionine adenosyltransferase I/III deficiency: Full gene sequencing (Rapid testing)
Autosomal Dominant Polycystic Kidney Disease Deletion/Duplication Panel
Autosomal Dominant Polycystic Kidney Disease Sequencing Panel
Autosomal Dominant Polycystic Kidney Disease Type 1 , Sequencing PKD1 Gene
Autosomal Dominant Polycystic Kidney Disease Type 1, Deletions-Duplications (MLPA) PKD1 Gene
Autosomal Dominant Polycystic Kidney Disease Type 2 , Sequencing PKD2 Gene
Autosomal Dominant Polycystic Kidney Disease Type 2, Deletions-Duplications (MLPA) PKD2 Gene
Autosomal Dominant Polycystic Kidney Disease Types 1 and 2 , Sequencing PKD1 and PKD2 Genes
Autosomal Dominant Polycystic Kidney Disease via the PKD1 Gene
Autosomal Dominant Polycystic Kidney Disease via the PKD2 Gene
Autosomal Dominant Polycystic Kidney Disease, Deletions-Duplications (MLPA) PKD1,PKD2 Genes
Autosomal Dominant Polycystic Kidney Disease: PKD2 Gene Deletion/Duplication
Autosomal Dominant Polycystic Kidney Disease: PKD2 Gene Sequencing
Autosomal dominant popliteal pterygium syndrome (deletions/duplications of IRF6 gene)
Autosomal Dominant Progressive External Ophthalmoplegia , Sequencing POLG2 Gene
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene
Autosomal Dominant Pseudohypoaldosteronism Type 1 , Sequencing NR3C2 Gene
Autosomal Dominant Pseudohypoaldosteronism Type 1 via the NR3C2 Gene
Autosomal Dominant Retinitis Pigmentosa
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene
Autosomal Dominant Retinitis pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene
Autosomal Dominant Retinitis Pigmentosa Deletion/Duplication Panel
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel
Autosomal Dominant Retinitis Pigmentosa Test (ADRP) - analysis of 385 mutations in 16 genes
Autosomal Dominant Retinitis Pigmentosa via the PRPF6 Gene
Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes
Autosomal dominant spastic ataxia 1 (sequence analysis of VAMP1 gene)
Autosomal Dominant Spastic Paraplegia Type 13, Sequencing HSPD1 Gene
Autosomal Dominant Spastic Paraplegia Type 31, Sequencing REEP1 Gene
Autosomal Dominant Spastic Paraplegia Type 8, Sequencing WASHC5
Autosomal Dominant Spinal Muscular Atrophy Lower Extremity Predominant, Sequencing DYNC1H1 Gene
Autosomal Dominant Spondylocostal Dysostosis Type 5, Sequencing TBX6 Gene
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene
Autosomal Dominant torsion dystonia type 4 Test
Autosomal Dominant, Non-Syndromic Holoprosencephaly via the GAS1 Gene
Autosomal Nephrogenic Diabetes Insipidus , Sequencing AQP2 Gene
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes
Autosomal Recessive Ataxias, Deletions-Duplications (MLPA) APTX, SETX and FXN Genes
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord Paresis Test
Autosomal Recessive Centronuclear Myopathy , Sequencing BIN1 Gene
Autosomal Recessive Congenital Cataract Type 18, Sequencing FYCO1 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOX12B Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the ALOXE3 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the CYP4F22 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the PNPLA1 Gene
Autosomal Recessive Congenital Ichthyosis (ARCI) via the TGM1 Gene
Autosomal Recessive Congenital Ichthyosis Type 2, Sequencing ALOX12B Gene
Autosomal Recessive Congenital Ichthyosis Type 3, Sequencing ALOXE3 Gene
Autosomal Recessive Congenital Ichthyosis Type 5 , Sequencing CYP4F22 Gene
Autosomal Recessive Congenital Ichthyosis Type 9, Sequencing CERS3 Gene
Autosomal Recessive Congenital Ichthyosis, Sequencing TGM1 Gene
Autosomal recessive cutis laxa type 2A (sequence analysis of ATP6V0A2 gene)
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via the ALDH18A1 Gene
Autosomal Recessive Cutis Laxa Type IA, Sequencing FBLN5 Gene
Autosomal Recessive Cutis Laxa Type IC, Sequencing LTBP4 Gene
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via the ATP6V0A2 Gene
Autosomal Recessive Cutis Laxa Type IIA, Sequencing ATP6V0A2 Gene
Autosomal Recessive Cutis Laxa Type IIB, Sequencing PYCR1 Gene
Autosomal recessive deafness Type 1A: Full gene sequencing (Rapid testing)
Autosomal recessive deafness Type 1B: Full gene sequencing (Rapid testing)
Autosomal recessive deafness type 4: Full gene sequencing (Rapid testing)
Autosomal Recessive Deafness Type 9, Sequencing OTOF Gene
Autosomal recessive deafness: Full gene sequencing (Rapid testing)
Autosomal Recessive Dopa-Responsive Dystonia, Sequencing TH Gene
Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene)
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Type 3, Sequencing LMNA Gene
Autosomal Recessive Familial Hypercholesterolemia, Sequencing LDLRAP1 Gene
Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes
Autosomal Recessive Familial Spastic Paraplegia Type 20, Sequencing SPG20 Gene
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes
Autosomal Recessive Hyper IgE Syndrome
Autosomal recessive hyper IgE syndrome (sequencing analysis of DOCK8 gene)
Autosomal Recessive Hyper IgE Syndrome via the DOCK8 Gene
Autosomal Recessive Hyper IgE Syndrome, Deletions-Duplications (MLPA) DOCK8 Gene
Autosomal Recessive Hyper IgE Syndrome, Sequencing DOCK8 Gene
Autosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene)
Autosomal Recessive Hypophosphatemic Rickets, Sequencing DMP1 Gene
Autosomal Recessive Isolated Ectopia Lentis
Autosomal Recessive Isolated Ectopia Lentis , Sequencing ADAMTSL4 Gene
Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene
Autosomal Recessive Limb-Girdle Muscular Dystrophy (LGMD) Deletion/Duplication Panel
Autosomal Recessive Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 18 Genes
Autosomal Recessive Malignant Osteopetrosis Type 1 , Sequencing TCIRG1 Gene
Autosomal Recessive Malignant Osteopetrosis Type 2 , Sequencing TNFSF11 Gene
Autosomal Recessive Malignant Osteopetrosis Type 3 with Renal Tubular Acidosis , Sequencing CA2 Gene
Autosomal Recessive Malignant Osteopetrosis Type 4 , Sequencing CLCN7 Gene
Autosomal Recessive Malignant Osteopetrosis Type 5 , Sequencing OSTM1 Gene
Autosomal Recessive Malignant Osteopetrosis Type 6, Sequencing PLEKHM1 Gene
Autosomal Recessive Malignant Osteopetrosis Type 7, Sequencing TNFRSF11A Gene
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 33 Genes
Autosomal Recessive Metaphyseal Chondrodysplasia , Sequencing Regulatory Area RMRP Gene
Autosomal recessive Methionine adenosyltransferase deficiency: Full gene sequencing (Rapid testing)
Autosomal Recessive Mitochondrial Pyruvate Carrier Deficiency (MPYCD) via the MPC1 (BRP44L) Gene
Autosomal Recessive Non-Specific ID Sequencing Panel
Autosomal Recessive non-syndromic hydrocephalus del/dup panel
Autosomal Recessive non-syndromic hydrocephalus sequencing panel
Autosomal Recessive Osteogenesis Imperfecta (OI) Panel
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis
Autosomal Recessive Polycystic Kidney Disease , Prenatal Diagnosis
Autosomal Recessive Polycystic Kidney Disease via the PKHD1 Gene
Autosomal Recessive Polycystic Kidney Disease, Deletions-Duplications (MLPA) PKHD1 Gene
Autosomal Recessive Polycystic Kidney Disease, Massive Sequencing (NGS) PKHD1 Gene
Autosomal Recessive Polycystic Kidney Disease, Sequencing Exons (15,22,27,50,55,59) PKHD1 Gene
Autosomal Recessive Polycystic Kidney Disease, Sequencing Exons (3,5,9,16-18,32,34,36,39,57,58,61) PKHD1 Gene
Autosomal Recessive Polycystic Kidney Disease: PKHD1 gene
Autosomal Recessive Polycystic Kidney Disease: PKHD1 Gene Deletion/Duplication
Autosomal Recessive Polycystic Kidney Disease: PKHD1 Gene Sequencing
Autosomal Recessive Primary Microcephaly Tier 2 Del/Dup Panel
Autosomal Recessive Primary Microcephaly Tier 2 Sequencing Panel
Autosomal Recessive Primary Microcephaly Type 1 , Sequencing MCPH1 Gene
Autosomal Recessive Primary Microcephaly Type 2, Sequencing WDR62 Gene
Autosomal Recessive Primary Microcephaly Type 5 , Sequencing ASPM Gene
Autosomal Recessive Primary Microcephaly Type 5, Deletions-Duplications (MLPA) ASPM Gene
Autosomal Recessive Primary Microcephaly, Panel Massive Sequencing (NGS) 8 Genes
Autosomal Recessive Pseudohypoaldosteronism Type 1 via the SCNN1A Gene
Autosomal Recessive Pseudohypoaldosteronism Type 1, Sequencing SCNN1A Gene
Autosomal Recessive Pseudohypoaldosteronism Type 1, Sequencing SCNN1B Gene
Autosomal Recessive Pseudohypoaldosteronism Type 1, Sequencing SCNN1G Gene
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Massive Sequencing (NGS) ATP6V1B1, ATP6V0A4 Genes
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Deletion/Duplication Panel
Autosomal Recessive Renal Tubular Dysgenesis (RTD) Sequencing Panel
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the ACE Gene
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGT Gene
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the AGTR1 Gene
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via the REN Gene
Autosomal Recessive Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene
Autosomal Recessive Retinitis Pigmentosa Deletion/Duplication Panel
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel
Autosomal Recessive Retinitis Pigmentosa Test (ARRP) - analysis of 585 mutations in 18 genes
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)
Autosomal Recessive Spastic Paraplegia Type 15, Sequencing SPG15 (ZFYVE26) Gene
Autosomal Recessive Spastic Paraplegia Type 48 , Sequencing AP5Z1 Gene
Autosomal Recessive Spastic Paraplegia Type 5A, Sequencing CYP7B1 Gene
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene
Autosomal Recessive Spinocerebellar Ataxia due to Ubiquinone Deficiency, Sequencing COQ8A Gene
Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16), Sequencing STUB1 Gene
Autosomal Recessive Spinocerebellar Ataxia Type 8 (SCAR8), Sequencing SYNE1 Gene
Autosomal Recessive Spinocerebellar Ataxia-10 via the ANO10 Gene
Autosomal Recessive Spondylocostal Dysostosis Type 1, Sequencing DLL3 Gene
Autosomal Recessive Spondylocostal Dysostosis Type 2, Sequencing MESP2 Gene
Autosomal Recessive Spondylocostal Dysostosis Type 3, Sequencing LFNG Gene
Autosomal Recessive Spondylocostal Dysostosis Type 4, Sequencing HES7 Gene
Autosomal Recessive Spondylocostal Dysostosis, Panel Massive Sequencing (NGS) 4 Genes
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via the TRMU Gene
Autosomal-Recessive Intellectual Disability via the NRXN1 Gene
Autosomic Autoimmune Lymphoproliferative Syndrome, Panel Massive Sequencing (NGS) 10 Genes
Autossomal Dominant Polycystic Kidney Disease: PKD1 gene
Autossomal Dominant Polycystic Kidney Disease: PKD2 gene
AUTS2
AUTS2 - Gene sequencing and CNV analysis
Avascular necrosis of femoral head, primary (ANFH)
Avascular necrosis of the femoral head, primary
Avellino Corneal Dystrophy Test
AVIL
AVL9
AVP
AVP Del/Dup
AVP Sequencing
AVPI1
AVPR1A
AVPR1B
AVPR2
AVPR2 Del/Dup
AVPR2 Gene Sequencing
AVPR2 Sequencing
AWAT1
AWAT2
AXDND1
Axenfeld-Rieger Syndrome
Axenfeld-Rieger syndrome (deletion/duplication analysis of PITX2 and FOXC1 genes)
Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene)
Axenfeld-Rieger syndrome (sequence analysis of PITX2 gene)
Axenfeld-Rieger Syndrome Deletion/Duplication Panel
Axenfeld-Rieger Syndrome Sequencing Panel
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger Syndrome Type 1 , Sequencing PITX2 Gene
Axenfeld-Rieger Syndrome Type 1 Test (the PITX2 gene - entire)
Axenfeld-Rieger Syndrome Type 1 Test (the PITX2 gene - exons: 2, 4)
Axenfeld-Rieger Syndrome Type 1 Test (the PITX2 gene - exons: 3, 5)
Axenfeld-Rieger Syndrome Type 1, Deletions-Duplications (MLPA) PITX2 Gene
Axenfeld-Rieger syndrome type 3
Axenfeld-Rieger Syndrome Type 3, Deletions-Duplications (MLPA) FOXC1 Gene
Axenfeld-Rieger Syndrome Type 3, Sequencing FOXC1 Gene
Axenfeld-Rieger Syndrome, Type 1 (PITX2) Test
Axenfeld-Rieger Syndrome, Type 1 Test
Axenfeld-Rieger Syndrome, Type 3 Test
AXIN1
AXIN2
AXIN2 Gene, Full Gene Analysis
AXL
AXONAL Charcot Marie Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 54 genes + mtDNA)
Axonal CMT Panel
Axonal Neuropathy and Neuromyotonia (HINT1 gene)
AZF deletions (Micordeletions, Y-linked)
AZF microdeletion
AZFa, AZFb and AZFc- Spermatogenic failure Y-linked
AZGP1
AZI2
AZIN1
AZIN2
Azoospermia due to Perturbations of Meiosis Test
Azoospermia Factor Analysis
AZU1
 

B 

B-cell expansion with NFKB and T-cell anergy
B-negative SCID Panel
B-positive SCID Panel
B-Thalassemia
B2M
B3GALNT1
B3GALT2
B3GALT4
B3GALT6
B3GALTL
B3GAT1
B3GAT2
B3GAT3
B3GAT3 - Gene sequencing
B3GLCT
B3GNT2
B3GNT3
B3GNT4
B3GNT6
B3GNT7
B3GNT8
B3GNTL1
B4GALNT3
B4GALT1
B4GALT1 Gene Sequencing by Massively Parallel Sequencing
B4GALT1 Prenatal Sequence Analysis
B4GALT2
B4GALT3
B4GALT4
B4GALT5
B4GALT6
B4GALT7
B4GALT7 Deletion/Duplication Analysis
B4GALT7 Familial Mutation/Variant Analysis
B4GALT7 Prenatal Sequence Analysis
B4GALT7 Sequence Analysis
B4GALT7 Sequence and Deletion/Duplication Analysis
B4GAT1
B9D1
B9D1 (MKSR1) Gene Sequencing
B9D2
B9D2 (MKSR2) Gene Sequencing
BAALC
BAAT
BAAT Deletion/duplication analysis
BAAT Gene Sequencing
BABAM1
Baby Genes Newborn Screening Panel
BACE1
BACH1
BACH2
BAG3
BAG3 Gene Sequencing
BAG3-Related Myofibrillar Myopathy Test
BAG4
BAG5
BAG6
BAGE2
BAHCC1
BAHD1
BAIAP2
BAIAP3
Bainbridge-Ropers syndrome
Bainbridge-Ropers syndrome (sequence analysis of ASXL3 gene)
Bainbridge-Ropers Syndrome Test
BAK1
Baller-Gerold syndrome
BAMBI
Bamforth Lazarus Syndrome: FOXE1 Gene Deletion/Duplication
Bamforth Lazarus Syndrome: FOXE1 Gene Sequencing
Bamforth-Lazarus Syndrome via the FOXE1 Gene
Band-like calcification with simplified gyration and polymicrogyria
Band-like calcification with simplified gyration and polymicrogyria (sequence analysis of OCLN gene)
BANF1
BANF2
BANK1
Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba syndrome (PTEN)
BANP
BAP1
BAP1 Tumor Predisposition Syndrome
BAP1-Related Tumor Predisposition Syndrome, Sequencing BAP1 Gene
Baraitser Winter syndrome deletion/duplication panel
Baraitser Winter syndrome sequencing panel
Baraitser-Winter syndrome 1 (sequence analysis of ACTB gene)
Baraitser-Winter Syndrome 1 Test
Baraitser-Winter Syndrome 2 Test
Baraitser-Winter syndrome type 1
Baraitser-Winter syndrome type 2
Baraitser-Winter Syndrome Type 2, Sequencing ACTG1 Gene
Baraitser-Winter syndrome, NGS panel
Barakat syndrome (sequence analysis of GATA3 gene)
Barakat Syndrome, Sequencing GATA3 Gene
Barakat Syndrome: GATA3 gene
Barber-Say Syndrome (BBRSAY)
BARD1
Bardet Biedl panel
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alstrom Syndrome, Albright Hereditary Osteodystrophy
Bardet-Biedl mutation detection in 14 genes: BBS1, BBS2,BBS3,BBS4,BBS5,BBS6, BBS7,BBS8,BBS9, BBS10,BBS12,PHF6,ALMS1, GNAS1
Bardet-Biedl syndrome
Bardet-Biedl syndrome (Bardet-Biedl Syndrom)
Bardet-Biedl syndrome (NGS panel for 22 genes)
Bardet-Biedl syndrome (sequence analysis of BBS1 gene)
Bardet-Biedl syndrome 10 (sequence analysis of BBS10 gene)
Bardet-Biedl syndrome 12 (sequence analysis of BBS12 gene)
Bardet-Biedl syndrome 15 (sequence analysis of WDPCP gene)
Bardet-Biedl syndrome 17 (sequence analysis of LZTFL1 gene)
Bardet-Biedl syndrome 4 (sequence analysis of BBS4 gene)
Bardet-Biedl syndrome 7 (sequence analysis of BBS7 gene)
Bardet-Biedl syndrome 9 (sequence analysis of BBS9 gene)
Bardet-Biedl syndrome CCDC28B related (sequence analysis of CCDC28B gene)
Bardet-Biedl Syndrome Deletion/Duplication Panel
Bardet-Biedl Syndrome NGS Panel
Bardet-Biedl Syndrome Panel
Bardet-Biedl Syndrome Panel by Massively Parallel Sequencing
Bardet-Biedl Syndrome Sequencing Panel
Bardet-Biedl Syndrome Spotlight Panel
Bardet-Biedl Syndrome Test (analysis of the 308 mutations in 14 genes)
Bardet-Biedl Syndrome Test (the BBS10 gene - entire)
Bardet-Biedl Syndrome Test (the BBS10 gene - exon 1)
Bardet-Biedl Syndrome Test (the BBS10 gene - exon 2)
Bardet-Biedl syndrome type 1
Bardet-Biedl Syndrome Type 1 , Sequencing BBS1 Gene
Bardet-Biedl syndrome type 10
Bardet-Biedl syndrome type 11
Bardet-Biedl syndrome type 12
Bardet-Biedl syndrome type 13
Bardet-Biedl Syndrome Type 13, Sequencing MKS1 Gene
Bardet-Biedl syndrome type 14
Bardet-Biedl syndrome type 15
Bardet-Biedl syndrome type 2
Bardet-Biedl syndrome type 2 (sequence analysis of BBS2 gene)
Bardet-Biedl Syndrome Type 2, Sequencing BBS2 Gene
Bardet-Biedl syndrome type 3
Bardet-Biedl Syndrome Type 3, Sequencing ARL6 Gene
Bardet-Biedl syndrome type 4
Bardet-Biedl Syndrome Type 4, Sequencing BBS4 Gene
Bardet-Biedl syndrome type 5
Bardet-Biedl syndrome type 5 (sequence analysis of BBS5 gene)
Bardet-Biedl syndrome type 6
Bardet-Biedl syndrome type 7
Bardet-Biedl Syndrome Type 7, Sequencing BBS7 Gene
Bardet-Biedl syndrome type 8
Bardet-Biedl Syndrome Type 8, Sequencing TTC8 Gene
Bardet-Biedl syndrome type 9
Bardet-Biedl Syndrome Type 9, Sequencing BBS9 Gene
Bardet-Biedl Syndrome via the ARL6/BBS3 Gene
Bardet-Biedl Syndrome via the BBS1 Gene
Bardet-Biedl Syndrome via the BBS10 Gene
Bardet-Biedl Syndrome via the BBS12 Gene
Bardet-Biedl Syndrome via the BBS2 Gene
Bardet-Biedl Syndrome via the BBS4 Gene
Bardet-Biedl Syndrome via the BBS5 Gene
Bardet-Biedl Syndrome via the BBS7 Gene
Bardet-Biedl Syndrome via the BBS9 Gene
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene
Bardet-Biedl Syndrome via the TTC8/BBS8 Gene
Bardet-Biedl Syndrome, BBS1-Related
Bardet-Biedl Syndrome, BBS10-Related
Bardet-Biedl Syndrome, BBS2-related
Bardet-Biedl syndrome, LZTFL1 related
Bardet-Biedl syndrome, modifier of, CCDC28B related
Bardet-Biedl Syndrome, Panel Massive Sequencing (NGS) 17 Genes
Bardet-Biedl Syndrome: BBS1 Related
Bardet-Biedl Syndrome: BBS10 Related
Bardet-Biedl Syndrome: BBS11 Related
Bardet-Biedl Syndrome: BBS12 Related
Bardet-Biedl Syndrome: BBS2 Related
Bardet-Biedl Syndrome: Deletion/Duplication Panel
Bardet-Biedl Syndrome: Sequencing and Deletion/Duplication Panel
Bardet-Biedl Syndrome: Sequencing Panel
Bardet-Biedl, Joubert Syndrome, Meckel, Senior-Loken Test
Bardet-Bield syndrome type 6 (sequence analysis of MKKS gene)
Bare lymphocyte syndrome, type 2
Bare lymphocyte syndrome, type 2, complementation group A
Bare Lymphocyte Syndrome, Type II, Complementation Group A Test
Bare Lymphocyte Syndrome, Type II, Complementation Group D Test
Bare Lymphocyte Syndrome, Type II, Complementation Group E Test
Bare Lymphocyte Syndrome: Type II
BARHL1
BARHL2
Bart-Pumphrey Syndrome: Full gene sequencing (Rapid testing)
Barth Syndrome
Barth syndrome (sequence analysis of TAZ gene)
Barth Syndrome via the TAZ Gene
Barth Syndrome: Full gene sequencing (Rapid testing)
Bartsocas-Papas syndrome (sequence analysis of RIPK4 gene)
Bartsocas-Papas Syndrome, Sequencing RIPK4 Gene
Bartter Syndrome
Bartter syndrome antenatal type 2 (sequence analysis of KCNJ1 gene)
Bartter Syndrome Panel
Bartter syndrome type 1
Bartter Syndrome Type 1 via the SLC12A1 Gene
Bartter syndrome type 2
Bartter Syndrome Type 2 , Sequencing Exons (2-4) KCNJ1 Gene
Bartter Syndrome Type 2 via the KCNJ1 Gene
Bartter Syndrome Type 2, Sequencing KCNJ1 Gene
Bartter Syndrome Type 2: KCNJ1 genes sequence analysis
Bartter syndrome type 3
Bartter syndrome type 3 (deletion/duplication analysis of CLCNKB gene)
Bartter syndrome type 3 (sequence analysis of CLCNKB gene)
Bartter Syndrome Type 3 Test
Bartter Syndrome Type 3, Deletions-Duplications (MLPA) CLCNKB Gene
Bartter Syndrome Type 3, Sequencing CLCNKB Gene
Bartter syndrome type 4 (sequence analysis of BSND gene)
Bartter Syndrome Type 4 via the BSND Gene
Bartter syndrome type 4a
Bartter Syndrome Type 4A Test
Bartter Syndrome Type 4A, Sequencing BSND Gene
Bartter syndrome type 4b
Bartter syndrome type 4b (sequence analysis of CLCNKA gene)
Bartter Syndrome Type 4B Test
Bartter Syndrome Type 4B, Sequencing CLCNKA Gene
Bartter Syndrome type I: SLC12A1 gene
Bartter Syndrome type II: KCNJ1 gene
Bartter Syndrome type III: CLCNKB gene
Bartter syndrome, antenatal type 1 (sequence analysis of SLC12A1 gene)
Bartter Syndrome, Panel Massive Sequencing (NGS) 23 Genes
Bartter Syndrome, Type 4 via the BSND Gene
Bartter Syndrome: Type 4A
Bartter/Gitelman Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 8 genes)
BARX2
Basal cell nevus syndrome
Basal Cell Nevus Syndrome (BCNS) - PTCH1
Basal Cell Nevus Syndrome (BCNS) - PTCH1
Basal Cell Nevus Syndrome (BCNS) - PTCH2
Basal Cell Nevus Syndrome (BCNS) - SUFU
Basal cell nevus syndrome due to germline PTCH2 mutation
Basal Cell Nevus Syndrome NGS panel
Basal Cell Nevus Syndrome, Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes
Basal Ganglia Calcification Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 20 genes)
Basal Ganglia Calcification NGS panel
Basal Ganglia Calcification Panel
Basal ganglia calcification type 3
Basal ganglia calcification type 4
Basal ganglia calcification type 5, idiopathic
Basal ganglia calcification type 6, idiopathic
Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene)
Basal ganglia calcification, idiopathic 1 (sequence anaysis of SLC20A2 gene)
Basal Ganglia with Response to Biotin Disease, Sequencing SLC19A3 Gene
Basal Laminar Drusen Test
Basic Fibrosis Panel (12 Genes)
BASP1
BATF
BATF2
Batten Disease, Neuronal Ceroid Lipofuscinosis 3 Test
BAX
BAZ1A
BAZ1B
BAZ2A
BAZ2B
BBOF1
BBS1
BBS1 Prenatal Sequence Analysis (GeneAware)
BBS1 Sequencing
BBS1-Related Bardet-Biedl Syndrome Test
BBS10
BBS10 Prenatal Sequence Analysis (GeneAware)
BBS10 Sequencing
BBS10-Related Bardet-Biedl Syndrome Test
BBS12
BBS12 Sequencing
BBS12-Related Bardet-Biedl Syndrome Test
BBS2
BBS2 Sequencing
BBS2-Related Bardet-Biedl Syndrome Test
BBS4
BBS4 Sequencing
BBS4-Related Bardet-Biedl Syndrome Test
BBS5
BBS5 Sequencing
BBS5-Related Bardet-Biedl Syndrome Test
BBS7
BBS7 Sequencing
BBS7-Related Bardet-Biedl Syndrome Test
BBS9
BBS9-Related Bardet-Biedl Syndrome Test
BBX
BCAM
BCAN
BCAP29
BCAP31
BCAR3
BCAS1
BCAS2
BCAS3
BCAT1
BCAT2
BCCIP
BCHE
BCHE Gene Sequencing
BCKDHA
BCKDHA Del/Dup
BCKDHA Deletion/Duplication Analysis
BCKDHA Familial Mutation/Variant Analysis
BCKDHA Gene Sequencing
BCKDHA Prenatal Sequence Analysis
BCKDHA Sequence Analysis
BCKDHA Sequence and Deletion/Duplication Analysis
BCKDHB
BCKDHB Del/Dup
BCKDHB Deletion/Duplication Analysis
BCKDHB Familial Mutation/Variant Analysis
BCKDHB Gene Sequencing
BCKDHB Prenatal Sequence Analysis
BCKDHB Prenatal Sequence Analysis (GeneAware)
BCKDHB Sequence Analysis
BCKDHB Sequence and Deletion/Duplication Analysis
BCKDK
BCL10
BCL11A
BCL2
BCL2A1
BCL2L10
BCL2L11
BCL2L12
BCL2L13
BCL2L14
BCL2L2
BCL2L2-PABPN1
BCL6
BCL6B
BCL7A
BCL7C
BCL9
BCL9L
BCLAF1
BCO1
BCO2
BCOR
BCOR Del/Dup
BCOR Gene Sequencing and Del/Dup
BCOR P85L Mutation
BCOR Remaining Exons Sequencing
BCOR Select Exons Sequencing and Del/Dup
BCOR-related Disorders: BCOR Gene Deletion/Duplication
BCOR-related Disorders: BCOR Gene Sequencing
BCORL1
BCR
BCR-ABL Kinase Mutation Analysis
BCR-ABL Quantitative Analysis
BCR-ABL(p190)
BCR-ABL(p210)
BCS1L
BCS1L Deletion/Duplication Analysis
BCS1L Full Gene Sequencing Analysis
BCS1L Prenatal Sequence Analysis (GeneAware)
BCS1L Sequence analysis
BCS1L Sequence and Deletion/Duplication Analysis
BDH1
BDH2
BDKRB1
BDKRB2
BDNF
BDNF Gene Sequencing
BDP1
Beals syndrome
BEAN1
Beare-Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS)
Beare-Stevenson Syndrome (FGFR2, p.Ser372Cys and p.Tyr375Cys)
Becker Muscular Dystrophy
Becker Muscular Dystrophy Test (BMD) - (MLPA analysis of the DMD gene - deletions/duplications)
Becker/Duchenne muscular dystrophy (DMD, deletion/duplication analysis of DMD gene)
Becker/Duchenne muscular dystrophy (DMD, sequence analysis of DMD gene)
Beckwith Wiedemann 11p15 Hypomethylation Analysis
Beckwith Wiedemann Syndrome
Beckwith Wiedemann syndrome test
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome (Beckwith-Wiedemann-Syndrom)
Beckwith-Wiedemann Syndrome (BWS)/Russell-Silver Syndrome (RSS) Molecular Analysis
Beckwith-Wiedemann Syndrome (Deletion/Duplication Test)
Beckwith-Wiedemann syndrome (methylation and deletion/duplication analysis of 11p15.5 region)
Beckwith-Wiedemann Syndrome (Methylation Test)
Beckwith-Wiedemann syndrome (sequence analysis of CDKN1C gene)
Beckwith-Wiedemann Syndrome (UPD Test)
Beckwith-Wiedemann Syndrome Study by Uniparental Disomy detection of chromosome 11
Beckwith-Wiedemann Syndrome Test
Beckwith-Wiedemann Syndrome Test (BWS) - MLPA analysis
Beckwith-Wiedemann Syndrome via the CDKN1C Gene
Beckwith-Wiedemann Syndrome, Chromosome 11 Uniparental Disomy
Beckwith-Wiedemann Syndrome, Deletions-Duplications (MLPA) KCNQ1OT1 Gene
Beckwith-Wiedemann Syndrome, Panel Massive Sequencing (NGS) 4 Genes
Beckwith-Wiedemann Syndrome, Sequencing CDKN1C Gene
Beckwith-Wiedemann Syndrome: CDKN1C gene sequence analysis
Beckwith-Wiedemann Syndrome: H19 and LIT1 Methylation Panel
Beckwith-Wiedemann Syndrome: H19 Methylation
Beckwith-Wiedemann Syndrome: LIT1 Methylation
BECN1
BEND3
BEND7
Benign Chronic Pemphigus Test
Benign Epilepsies Spotlight Panel
Benign Familial Hematuria, Massive Sequencing COL4A3, COL4A4 Genes
Benign Familial Hematuria, Sequencing COL4A3 Gene
Benign Familial Infantile Seizures 2 Test
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS)
Benign Familial Neonatal Epilepsy, Deletions-Duplications (MLPA) KCNQ2 Gene
Benign Familial Neonatal Epilepsy, Sequencing KCNQ2 Gene
Benign familial Neonatal Epilepsy, Sequencing KCNQ3 Gene
Benign Familial Neonatal Infantile Seizures , Sequencing SCN2A Gene
Benign Familial Neonatal Infantile Seizures Test
Benign Familial Neonatal Infantile Seizures, Panel Massive Sequencing (NGS) 4 Genes
Benign familial neonatal-infantile seizures-3 (sequence analysis of SCN2A gene)
Benign Familial Neonatal/Infantile Seizures (KCNQ2 gene)
Benign Familial Neonatal/Infantile Seizures (PRRT2 gene)
Benign Hereditary Chorea
Benign hereditary chorea (deletion/duplication analysis of NKX2-1 gene)
Benign hereditary chorea (sequence analysis of NKX2-1 gene)
Benign Hereditary Chorea , Sequencing NKX2-1 (TITF1) Gene
Benign Hereditary Chorea, Deletions-Duplications (MLPA) NKX2-1 (TITF1) Gene
Benign Recurrent Intrahepatic Cholestasis Type 2, Sequencing ABCB11 Gene
Bent bone dysplasia syndrome
Bent Bone Dysplasia Syndrome (BBDS)
Bent bone dysplasia syndrome (BBDS) exon 11b
Bent bone dysplasia syndrome (BBDS) remaining
Berardinelli-Seip Congenital Lipodystrophy
Berardinelli-Seip Congenital Lipodystrophy Type 1 , Sequencing AGPAT2 Gene
Berardinelli-Seip Congenital Lipodystrophy Type 1 Test
Berardinelli-Seip Congenital Lipodystrophy Type 2 Test
Berardinelli-Seip Congenital Lipodystrophy Type 2, Sequencing BSCL2 Gene
Bernard Soulier syndrome type A1
Bernard Soulier syndrome type A2
Bernard Soulier syndrome type B
Bernard Soulier syndrome type C
Bernard-Soulier syndrome (sequence analysis of GP1BA gene)
Bernard-Soulier syndrome (sequence analysis of GP1BB gene)
Bernard-Soulier syndrome (sequence analysis of GP9 gene)
Bernard-Soulier Syndrome Deletion/Duplication Panel
Bernard-Soulier Syndrome NGS Panel
Bernard-Soulier Syndrome Sanger Sequencing Panel
Bernard-Soulier Syndrome Sequence Analysis
Bernard-Soulier Syndrome Type A Test
Bernard-Soulier Syndrome Type A1 and A2, Sequencing GP1BA Gene
Bernard-Soulier Syndrome Type B Test
Bernard-Soulier Syndrome Type B, Sequencing GP1BB Gene
Bernard-Soulier Syndrome Type C Test
Bernard-Soulier Syndrome Type, Sequencing GP9 Gene
Bernard-Soulier Syndrome via the GP1BA Gene
Bernard-Soulier Syndrome via the GP1BB Gene
Bernard-Soulier Syndrome via the GP9 Gene
Bernard-Soulier Syndrome, Panel Massive Sequencing (NGS) GP9, GP1BA, GP1BB Genes
Best Macular Dystrophy Test (analysis of 138 mutation in the BEST1 gene)
Best Vitelliform Macular Dystrophy
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene
Best Vitelliform Macular Dystrophy Test
BEST1
BEST1 Del/Dup
BEST1 Deletion/Duplication Analysis
BEST1 Familial Mutation/Variant Analysis
BEST1 Gene Sequencing
BEST1 Prenatal Sequence Analysis
BEST1 Sequence Analysis
BEST1 Sequence and Deletion/Duplication Analysis
BEST1-related Disorders: BEST1 Gene Deletion/Duplication
BEST1-related Disorders: BEST1 Gene Sequencing
BEST1-Related Retinitis Pigmentosa Test
BEST2
BEST3
Bestrophinopathy
BET1
BET1L
Beta Globin (HBB) Deletion/Duplication
Beta Globin (HBB) Gene Sequencing
Beta Globin (HBB) HbS, HbC, and HbE Mutations
Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal
Beta Globin (HBB) Sequencing and Deletion/Duplication
Beta Globin (HBB) Sequencing, Fetal
Beta Globin full gene sequencing
Beta Globin Sequencing
Beta Thalassemia
Beta Thalassemia analysis for a known point mutation
Beta Thalassemia deletion/duplication analysis
Beta thalassemia major: Full gene sequencing (Rapid testing)
Beta Thalassemia sequence analysis
Beta Thalassemia Sequencing
Beta Thalassemia, Frequent Mutations HBB Gene
Beta Thalassemia, Sequencing HBB Gene
Beta Thalassemia: HBB
Beta-glucosidase (GBA) Deficiency Test
Beta-Hemoglobinopathies, Hemoglobins C, D, E and O (HBB)
Beta-Hemoglobinopathy, Beta Thalassemia (HBB)
Beta-Hemoglobinopathy, Sickle Cell Disease (HBB)
Beta-Hexosaminidase Pseudodeficiency
Beta-Ketothiolase Deficiency
Beta-Ketothiolase Deficiency (ACAT1)
Beta-Ketothiolase Deficiency, Sequencing ACAT1 Gene
Beta-Mannosidosis
Beta-Mannosidosis Test
Beta-Mannosidosis: MANBA Gene Deletion/Duplication
Beta-Mannosidosis: MANBA Gene Sequencing
Beta-mannosiodosis Test
Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45 Sequencing
Beta-Propeller Protein-Associated Neurodegeneration (BPAN), WDR45, Sequencing
Beta-Sarcoglycanopathy
Beta-Sarcoglycanopathy Test
Beta-thalassaemia gene mapping
Beta-Thalassemia
Beta-Thalassemia (HBB)
Beta-thalassemia (sequence analysis of HBB gene)
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene
Beta-Thalassemia Test
Beta-Thalassemia Test (the HBB gene - entire)
Beta-Thalassemia Test (the HBB gene - exon 2)
Beta-Thalassemia Test (the HBB gene - exons: 1,3)
Beta-Thalassemias (Hemoglobin Beta Gene) Sequence Analysis
Beta-ureidopropionase deficiency
Beta-Ureidopropionase Deficiency Test
Bethlem myopathy
Bethlem myopathy (sequence analysis of COL6A1, COL6A2 and COL6A3 genes)
Bethlem myopathy and Ullrich congenital muscular dystrophy NGS panel
Bethlem myopathy panel
Bethlem myopathy type 1
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Deletion/Duplication
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A1-3 Gene Deletion/Duplication Panel
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Deletion/Duplication
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A2 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A3 Gene Deletion/Duplication
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: COL6A3 Gene Sequencing
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing and Deletion/Duplication Panel
Bethlem Myopathy/Ullrich Congenital Muscular Dystrophy: Sequencing Panel
BEX1
BEX2
BEX4
BFAR
BFSP1
BFSP2
BGLAP
BGN
BH4-deficient Hyperphenylalaninemia A: Full gene sequencing (Rapid testing)
BH4-deficient Hyperphenylalaninemia B: Full gene sequencing (Rapid testing)
BH4-Deficient Hyperphenylalaninemia C Test
BH4-deficient Hyperphenylalaninemia C: Full gene sequencing (Rapid testing)
BH4-Deficient Hyperphenylalaninemia D Test
BH4-deficient Hyperphenylalaninemia D: Full gene sequencing (Rapid testing)
BHLHA15
BHLHA9
BHLHB9
BHLHE40
BHLHE41
BHMT
BHMT2
BICC1
BICD1
BICD2
Bicuspid aortic valve
BID
Bietti crystalline corneoretinal dystrophy
Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 Gene
Bietti Crystalline Dystrophy Test
Bifid nose
Bifunctional Enzyme Deficiency, Sequencing HSD17B4 Gene
BIK
Bilateral frontoparietal polymicrogyria (BFPP) via the ADGRG1 (GPR56) Gene
Bilateral Frontoparietal Polymicrogyria , Sequencing ADGRG1 (GPR56) Gene
Bile Acid Defects Panel
Bile acid synthesis defect type 2, congenital
Bile acid synthesis defect type 3, congenital
Bile acid synthesis defect type 4, congenital
BIN1
BIN1 deletion/duplication
BIN1 sequencing
BIN2
BIN3
Bioinformatics Analysis
Bioinformatics and Report of the NGS panel remaining genes
Biotin-responsive basal ganglia disease (sequence analysis of SLC19A3 gene)
Biotin-Responsive Basal Ganglia Disease Test
Biotin-Thiamine-Responsive Basal Ganglia Disease via the SLC19A3 Gene
Biotinidase (BTD) Deficiency Test
Biotinidase Deficiency
Biotinidase deficiency (BTD Gene)
Biotinidase Deficiency (BTD Gene), Full Gene Analysis
Biotinidase Deficiency (BTD) 5 Mutations
Biotinidase Deficiency (BTD) Sequencing
Biotinidase deficiency (sequence analysis of BTD gene)
Biotinidase Deficiency Test
Biotinidase Deficiency, Screening Mutations BTD Gene
Biotinidase Deficiency, Sequencing BTD Gene
Biotinidase Deficiency: BTD Gene Deletion/Duplication
Biotinidase Deficiency: BTD Gene Sequencing
Biotinidase deficiency: Full gene sequencing (Rapid testing)
Biotinidase full gene sequencing
Biotinidase Sequencing
BIRC2
BIRC3
BIRC5
BIRC6
BIRC7
BIRC8
Birk-Barel Mental Retardation Dysmorphism Syndrome Test
Birk-Barel Mental Retardation Dysmorphism Syndrome, Sequencing KCNK9 Gene
Birt-Hogg-Dubé Syndrome: FLCN gene
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube Syndrome (BHD)
Birt-Hogg-Dubé syndrome (deletion/duplication analysis of FLCN gene)
Birt-Hogg-Dube Syndrome (FLCN analysis for a known point mutation)
Birt-Hogg-Dube Syndrome (FLCN sequence analysis)
Birt-Hogg-Dube Syndrome (FLCN deletion/duplication analysis)
Birt-Hogg-Dube Syndrome (FLCN)
Birt-Hogg-Dube syndrome (sequence analysis of FLCN gene)
Birt-Hogg-Dube Syndrome Test
Birt-Hogg-Dube Syndrome via the FLCN Gene
Birt-Hogg-Dubé Syndrome, Deletions-Duplications (MLPA) FLCN Gene
Birt-Hogg-Dube Syndrome, Mutation (c.1285delC/c.1285dupC) FLCN Gene
Birt-Hogg-Dube Syndrome, Sequencing FLCN Gene
Birt-Hogg-Dube Syndrome: FLCN Gene Deletion/Duplication
Birt-Hogg-Dube Syndrome: FLCN Gene Sequencing
BIVM
BIVM-ERCC5
Bjornstad syndrome
Bjornstad Syndrome (sequence analysis of gene BCS1L)
Bjornstad Syndrome via the BCS1L Gene
Björnstad Syndrome, Sequencing BCS1L Gene
Blackfan-Diamond Anemia
Blackfan-Diamond anemia (sequence analysis of GATA1 gene)
Blackfan-Diamond anemia - Sequencing Panel
Bladder cancer
Blau syndrome
Blau syndrome (sequence analysis of NOD2 gene)
Blau Syndrome Test
Blau Syndrome, Sequencing NOD2 Gene
BLCAP
Bleeding disorder, platelet-type 15
Bleeding disorder, platelet-type 17
Bleeding disorder, platelet-type 8
Bleeding Disorder/Coagulopathy Panel
Bleeding Disorders Deletion/Duplication Panel
Bleeding Disorders Sequencing Panel
Bleeding Disorders, Panel Massive Sequencing (NGS) 23 Genes
Blepharophimosis, epicanthus inversus and ptosis, types 1 and 2 (BPES 1 and 2, deletion/duplication analysis of FOXL2 gene)
Blepharophimosis, epicanthus inversus, and ptosis
Blepharophimosis, Epicanthus Inversus, and Ptosis: FOXL2 gene deletions-duplications analysis (MLPA)
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 and 2 (BPES 1 and 2, sequence analysis of FOXL2 gene)
Blepharophimosis, Ptosis, and Epicanthus Inversus Test
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 analysis for a known point mutation)
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 deletion/duplication analysis)
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 sequence analysis)
Blepharophimosis-ptosis-epicanthus inversus syndrome (FOXL2 sequence and deletion/duplication analysis)
Blepharophimosis-Ptosis-Epicanthus Inversus, Deletions-Duplications (MLPA) FOXL2 Gene
Blepharophimosis-Ptosis-Epicanthus Inversus, Sequencing FOXL2 Gene
Blepharophimosis-ptosis-intellectual disability syndrome
Blepharophimosis-ptosis-intellectual disability syndrome (sequence analysis of UBE3B gene)
BLID
BLK
BLK Gene Sequencing and Del/Dup
BLK Sequencing
BLM
BLM Del/Dup
BLM Deletion/duplication analysis
BLM Gene Sequencing
BLM Prenatal Sequence Analysis (GeneAware)
BLMH
BLNK
BLOC1S1
BLOC1S2
BLOC1S3
BLOC1S3 Prenatal Sequence Analysis
BLOC1S6
BLOC1S6 Deletion/duplication analysis
BLOC1S6 Gene Sequencing
Blomstrand lethal chondrodysplasia (sequence analysis of PTH1R gene)
Bloom Syndrome
Bloom Syndrome (BLM), 1 Variant
Bloom Syndrome (see Ashkenazi Jewish Screening Panel)
Bloom syndrome (sequence analysis of BLM gene)
Bloom Syndrome Ashkenazic
Bloom Syndrome Mutation Analysis
Bloom Syndrome Panel
Bloom Syndrome Test
Bloom Syndrome via the BLM Gene
Bloom Syndrome, BLM Gene Sequencing
Bloom Syndrome, BLM KFM Sequencing
Bloom Syndrome, BLM Prenatal Sequencing
Bloom Syndrome, Sequencing BLM (RECQL3) Gene
Bloom Syndrome: BLM Gene Deletion/Duplication
Bloom Syndrome: BLM Gene Sequencing
Bloom Syndrome: Full gene sequencing (Rapid testing)
Bloomand#39;s Syndrome: BLM Gene Deletion/Duplication
Bloomand#39;s Syndrome: BLM Gene Sequencing
Blue-Mono-Cone-Monochromatic (BCM) Panel
Blue-Mono-Cone-Monochromatic Type Colorblindness Test
BLVRA
BLVRB
BLZF1
BMF
BMI1
BMP1
BMP10
BMP15
BMP15 Gene Sequencing
BMP15 Sequencing
BMP2
BMP2K
BMP3
BMP4
BMP4 - Syndromic Microphthalmia
BMP4 Gene Sequence Analysis
BMP5
BMP7
BMPER
BMPR1A
BMPR1A Gene Sequencing and Del/Dup
BMPR1A, SMAD4 Gene Sequencing and Del/Dup
BMPR1A-Related Juvenile Polyposis Test
BMPR1A Gene, Full Gene Analysis
BMPR1B
BMPR2
BMPR2 - Gene Sequencing and CNV analysis
BMPR2 Gene Sequencing and Del/Dup
BMS1
BNAR Syndrome, Sequencing FREM1 Gene
BNC1
BNC2
BNIP2
BNIP3L
BNIPL
BOC
BOD1
BOD1L1
BOD1L2
Bohring-Opitz syndrome
Bohring-Opitz syndrome (sequence analysis of ASXL1 gene)
Bohring-Opitz Syndrome Test
Bohring-Opitz Syndrome, Sequencing ASXL1 Gene
BOLA1
BOLA3
BOLL
Bone Dysplasias: FGFR3 gene
Bone marrow failure panel
Bone Marrow Failure Related Disorders, Panel Massive Sequencing (NGS) 61 Genes
Bone marrow failure syndrome 1 (sequence analysis of SRP72 gene)
Bone Marrow Failure Syndrome Panel
Bone marrow failure syndrome type 1
Bone Marrow Failure Syndromes (Metabolism) Panel
Bone Marrow Failure Syndromes Deletion/Duplication Panel
Bone Marrow Failure Syndromes Panel
Bone Marrow Failure Syndromes with Leukemia Panel
Bone mineral density QTL18, osteoporosis
Boomerang dysplasia (BD)
BORA
BORCS5
BORCS6
BORCS7
BORCS8
Borjeson-Forssman-Lehman Syndrome, Sequencing PHF6 Gene
Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome (sequence analysis of PHF6 gene)
Borjeson-Forssman-Lehmann Syndrome Test
Borjeson-Forssman-Lehmann Syndrome: PHF6 Gene Deletion/Duplication
Borjeson-Forssman-Lehmann Syndrome: PHF6 Gene Sequencing
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene
Bothnia retinal dystrophy
Bothnia retinal dystrophy (sequence analysis of RLBP1 gene)
Bothnia Retinal Dystrophy, Sequencing RLBP1 Gene
BPGM
BPI
BPIFA1
BPIFA2
BPIFA3
BPIFB1
BPIFB2
BPIFB3
BPIFB4
BPIFB6
BPIFC
BPNT1
BPTF
Brachydactyly (Brachydaktylie)
Brachydactyly / Syndactyly Panel
Brachydactyly Type A1, Sequencing IHH Gene
Brachydactyly type A2
Brachydactyly type A2 (sequence analysis of BMP2 gene)
Brachydactyly type A2 (sequence analysis of BMPR1B gene)
Brachydactyly Type A2 Test (the GDF5 gene - entire)
Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes
Brachydactyly type B1
Brachydactyly Type B1 Test (the ROR2 gene - exons: 8, 9)
Brachydactyly Type B1, Sequencing ROR2 Gene
Brachydactyly Type B1/B2 Test (analysis of two genes: ROR2 - exons: 8, 9; NOG - entire)
Brachydactyly Type B2 Test - atypical form (the NOG gene - entire)
Brachydactyly Type B2, Sequencing NOG Gene
Brachydactyly Type B2: NOG gene sequence analysis
Brachydactyly Type C Test
Brachydactyly Type C Test (the GDF5 gene - entire)
Brachydactyly Type D Test (the HOXD13 gene - entire)
Brachydactyly Type E Test (the HOXD13 gene - entire)
Brachydactyly Type E, Sequencing HOXD13 Gene
Brachydactyly type E1
Brachydactyly Type E2, Sequencing PTHLH Gene
Brachydactyly via the CHSY1 Gene
Brachydactyly, Panel Massive Sequencing (NGS) 18 Genes
Brachydactyly, Type B2 Test
Brachydactyly-mental retardation syndrome
Brachydactyly-mental retardation syndrome (sequence analysis of HDAC4 gene)
Brachydactyly-Mental Retardation Syndrome , Sequencing HDAC4 Gene
Brachydactyly-syndactyly syndrome
Brachyolmia Type 2 Test
Brachyolmia type 3
Brachyolmia Type 3 Test
Brachyolmia Type 3, Sequencing TRPV4 Gene
Bradyopsia
Bradyopsia (sequence analysis of RGS9 gene)
BRAF
BRAF by NGS
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
BRAF Del/Dup
BRAF Full Gene Sequencing Analysis
BRAF gene (V600E mutation)
BRAF Gene Deletion/Duplication
BRAF Gene Sequencing
BRAF Gene V600E Mutation
BRAF Mutations in Melanoma and Colorectal Cancer
BRAF Mutations in Thyroid Cancer
BRAF Sequencing Exons 6 and 11-16
BRAF Sequencing Remaining Exons
BRAF V600 Mutation
BRAF V600E
BRAF-Related Cardiofaciocutaneous Syndrome
BRAF-Related Cardiofaciocutaneous Syndrome Test
BRAF-Related CFC Syndrome KFM Sequence Analysis
BRAF-Related CFC Syndrome PND Sequence Analysis
BRAF-Related CFC Syndrome Sequence Analysis
BRAF-related disorder test
BRAF-Related Disorders via the BRAF Gene
BRAF-related Disorders: BRAF Gene Sequencing
BRAF-Related LEOPARD Syndrome Test
BRAF-Related Noonan Syndrome Test
Brain Development Disorders Panel
Brain iron accumulation syndromes panel
Brain Malformation Panel
Brain Malformation Seizures Spotlight Panel
Brain malformations
Brain Malformations / Neuronal Migration Disorders
Brain Malformations: Sequencing Panel
Brain Small Vessel Disease with or without Ocular Anomalies (BSVD)
Brain Small-Vessel Disease with Hemorrhage: COL4A1 gene sequence analysis
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel
Brain, CNS, and PNS Cancer: Sequencing Panel
BrainTumorNext
Branched-chain aminotransferase 1 deficiency
Branched-chain aminotransferase 2 deficiency
Branched-chain ketoacid dehydrogenase kinase deficiency
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via the BCKDK Gene
Branchio-Oculo-Facial Syndrome (BOFS) via the TFAP2A gene
Branchio-Oto-Renal (BOR) Syndrome Panel
Branchio-Oto-Renal Syndrome
Branchiooculofacial syndrome
Branchiooculofacial syndrome (BOFS)
Branchiooculofacial syndrome (sequence analysis of TFAP2A gene)
Branchiooculofacial Syndrome Test
Branchiooculofacial Syndrome, Sequencing TFAP2A
Branchiootic syndrome type 1
Branchiootic Syndrome Type 3, Sequencing SIX1 Gene
Branchiootorenal Spectrum Disorder Deletion/Duplication Panel
Branchiootorenal Spectrum Disorder Panel
Branchiootorenal Spectrum Disorders NGS Panel
Branchiootorenal Spectrum Disorders Test
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes
Branchiootorenal Syndrome
Branchiootorenal syndrome (Branchiootorenales Syndrom)
Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene)
Branchiootorenal Syndrome 1 Test (the EYA1 gene - entire)
Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene)
Branchiootorenal Syndrome Deletion/Duplication Panel
Branchiootorenal Syndrome Panel
Branchiootorenal Syndrome Sequencing Panel
Branchiootorenal syndrome type 1
Branchiootorenal Syndrome Type 1, Deletions-Duplications (MLPA) EYA1 Gene
Branchiootorenal Syndrome Type 1, Sequencing EYA1 Gene
Branchiootorenal syndrome type 2
Branchiootorenal Syndrome Type 2, Sequencing SIX5 Gene
Branchiootorenal syndrome via the EYA1 Gene
Branchiootorenal syndrome via the SIX1 Gene
Branchiootorenal syndrome via the SIX5 Gene
Branchiootorenal Syndrome: EYA1 gene deletions-duplications analysis (MLPA)
Branchiootorenal Syndrome: EYA1 gene sequence analysis
BRAP
BRAT1
BRCA - breast cancer, familial
BRCA - pancreatic cancer
BRCA 1/2 Deletion/Duplication Analysis
BRCA 1/2 Gene Sequence and Deletion/Duplication Analysis
BRCA Ashkenazi Jewish 3-site Mutation panel
BRCA Ashkenazi Jewish Panel
BRCA Hereditary Breast and Ovarian Cancer
BRCA Hereditary Breast and Ovarian Cancer Test
BRCA screening
BRCA1
BRCA1 and BRCA2
BRCA1 and BRCA2 Del/Dup
BRCA1 and BRCA2 Gene Mutations
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
BRCA1 and BRCA2 Mutation Analysis
BRCA1 and BRCA2 Sequencing
BRCA1 Gene Analysis
BRCA1 Gene Sequencing and Del/Dup
BRCA1 Hereditary Breast and Ovarian Cancer
BRCA1 Hereditary Breast and Ovarian Cancer Test
BRCA1 Mutation and Del/Dup Analysis
BRCA1 Targeted Analysis
BRCA1, BRCA2 panel
BRCA1, BRCA2, and PALB2 Mutation Analysis
BRCA1, BRCA2, and TP53 Mutation Analysis
BRCA1/ BRCA2 Full Gene (Includes Del/Dup)
BRCA1/2
BRCA1/2 Ashkenazi Founder Mutation Panel
BRCA1/2 Comprehensive Analysis
BRCA1/2 Deletion and Duplication Analysis
BRCA1/2 Mutation and Del/Dup Analysis
BRCA1/2 Panel
BRCA1/2 Sequencing
BRCA1/2 Sequencing and Del/Dup analysis
BRCA1/BRCA2 Full Gene Analysis
BRCA1/BRCA2 Sequencing
BRCA2
BRCA2 Gene Analysis
BRCA2 Gene Sequencing and Del/Dup
BRCA2 Hereditary Breast and Ovarian Cancer
BRCA2 Hereditary Breast and Ovarian Cancer Test
BRCA2 Mutation and Del/Dup Analysis
BRCA2 Targeted Analysis
BRCA2-Related Fanconi Anemia Test
BRCAPlus
BRCAPlus-Expanded
BRCATrue
BRCATrue Ashkenazi (3 site)
BRCC3
BRD1
BRD2
BRD3
BRD7
BRD8
BRD9
BRDT
BRE
Breast and Ovarian Cancer
Breast and Ovarian Cancer - extended Diagnostic Panel
Breast and Ovarian Cancer 21 Gene Panel
Breast and Ovarian Cancer Panel
Breast and Ovarian Cancer Test
Breast and Ovarian Cancer: Sequencing and Deletion/Duplication Panel
Breast and Ovarian Hereditary Cancer , Panel Massive Sequencing (NGS) BRCA1 and 2 Genes
Breast and Ovarian Hereditary Cancer , Sequencing RAD51C Gene
Breast and Ovarian Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 20 Genes
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Deletion/Duplication
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication
Breast and Ovarian Hereditary Cancer, Deletions-Duplications (MLPA) BRCA1 and 2 Genes
Breast and Ovarian Hereditary Cancer, Deletions-Duplications (MLPA) BRCA1 Gene
Breast and Ovarian Hereditary Cancer, Deletions-Duplications (MLPA) BRCA2 Gene
Breast and Ovarian Hereditary Cancer, Deletions-Duplications (MLPA) CHEK2 Gene
Breast and Ovarian Hereditary Cancer, Mutation (1100 delC) CHEK2 Gene
Breast and Ovarian Hereditary Cancer, Panel Massive Sequencing (NGS) BRCA1,BRCA2,TP53,PALB2 Genes
Breast and Ovarian Hereditary Cancer, Screening Mutations BRCA1 Gene
Breast and Ovarian Hereditary Cancer, Screening Mutations BRCA2 Gene
Breast and Ovarian Hereditary Cancer, Sequencing BRCA1 Gene
Breast and Ovarian Hereditary Cancer, Sequencing BRCA2 Gene
Breast Cancer
Breast cancer (mutations 187delAG(BRCA1), 5385insC(BRCA1), 6174delT(BRCA2))
Breast cancer (sequence analysis of CASP8 gene)
Breast cancer (sequence analysis of CDH1 gene)
Breast cancer (sequence analysis of PALB2 gene)
Breast cancer (sequence analysis of RAD51 gene)
Breast cancer - 10 genes (NGS panel for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, RAD51C, RAD51D and TP53 genes)
Breast cancer - 18 genes (NGS panel for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, ERCC4, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes)
Breast Cancer Comprehensive Panel
Breast Cancer Focus Panel
Breast Cancer High Risk Panel
Breast Cancer High Risk Panel and PALB2
Breast Cancer High/Moderate Risk Panel
Breast Cancer Panel
Breast Cancer Test (genetic predisposition) - CYP1B1 gene mutations carrier test (C142G, G355T, G4326C)
Breast Cancer Test (genetic predisposition) - panel I (multi-gene test)
Breast Cancer Test (genetic predisposition) - panel II (supplementary multi-gene test)
Breast Cancer Test (genetic predisposition) - the BRCA2 gene mutation carrier test (C5792T)
Breast Cancer – Basic Diagnostics
Breast Cancer, BRCA1, BRCA2, PALB2, CHEK2
Breast cancer, male, susceptibility to
Breast cancer, RINT1 related
Breast cancer, susceptibility to
Breast cancer, susceptibility to (sequence analysis of BARD1 gene)
Breast ovarian cancer panel
Breast ovarian cancer panel PLUS
Breast Tumors Gene Set
Breast, Colon and Ovarian Hereditary Cancer, Panel Massive Sequencing (NGS) 23 Genes
Breast, Ovarian Cancer Test (genetic predisposition) - the BRCA1 gene mutation carrier test (c.3700-3704 delGTAAA-3819del5)
Breast, Ovarian, Colorectal, Prostate, Thyroid Cancer and Renal Cell Carcinoma Test (genetic predisposition) - the CHEK2 gene mutations carrier test (1100delC, IVS2+1G>A, I157T)
Breast, Ovarian, Colorectal, Prostate, Thyroid Cancer and Renal Cell Carcinoma Test (genetic predisposition) - the CHEK2 gene mutations carrier test (1100delC, IVS2+1G>A, I157T) Breast, ovarian cancer-genetic predisposition, the BRCA1 gene mutations carri
Breast, Ovarian, Prostate Cancer Test (genetic predisposition) - the NBS1 gene mutation carrier test (657del5)
Breast-ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 4 (sequence analysis of RAD51D)
Breast-ovarian cancer, familial, susceptibility to, type 4
Breast-ovarian cancer, familial, type 2
Breast/ovarian cancer (Brust- Eierstockkrebs)
Breast/Ovarian Cancer Panel
BreastNext
Breasts aplasia (sequence analysis of PTPRF gene)
BreastTrue
BREVAGen
BRF1
BRF2
BRINP1
BRINP2
BRINP3
BRIP1
BRIP1 (FANCJ) Deletion/duplication analysis
BRIP1 (FANCJ) Gene Sequencing
BRIP1 - Gene sequencing
BRIP1-Related Breast Cancer
Brittle cornea syndrome
Brittle cornea syndrome 1 (BCS1)
Brittle cornea syndrome 1 (sequence analysis of ZNF469 gene)
Brittle Cornea Syndrome 1 Test
Brittle cornea syndrome 2 (BCS2)
Brittle Cornea Syndrome Sequencing Panel
Brittle Cornea Syndrome, Panel Massive Sequencing (ZNF469, PRDM5) Genes
BRIX1
BRK1
BRMS1
BRMS1L
Brody myopathy
Brody myopathy (sequence analysis of ATP2A1 gene)
Brody Myopathy: ATP2A1 Gene Sequencing
Bronchiectasis NGS Panel
Bronchiectasis Panel
Bronchiectasis Panel (17 Genes)
Bronchiectasis with or without elevated sweat chloride type 2
Bronchiectasis with or without elevated sweat chloride type 2 (sequence analysis of SCNN1A gene)
Bronchiectasis: Deletion/Duplication Panel
Bronchiectasis: Sequencing Panel
Brooke-Spiegler syndrome (sequence analysis of CYLD gene)
Brooke-Spiegler Syndrome Test
Brooke-Spiegler Syndrome, Sequencing CYLD Gene
Brown-Vialetto-Van Laere syndrome (Brown-Vialetto-Van Laere Syndrom)
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 1 (sequence analysis of SLC52A3 gene)
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A2 Gene
Brown-Vialetto-Van Laere syndrome type 2
Brown-Vialetto-Van Laere syndrome type 2 (sequence analysis of SLC52A2 gene)
BRPF1
BRPF3
BrS Sequencing Panel
BRS3
BRSK2
Bruck Syndrome
Bruck syndrome (Bruck Syndrom)
Bruck syndrome (sequence analysis of FKBP10 gene)
Bruck syndrome 2 (BRKS2)
Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene)
Bruck Syndrome 2 Test
Bruck Syndrome Type 1, Sequencing FKBP10 Gene
Bruck Syndrome Type 2, Sequencing PLOD2 Gene
Bruck Syndrome, Panel Massive Sequencing (NGS) (FKBP10, PLOD2) Genes
Bruck, Syndrome Type 2: PLOD2 gene sequence analysis
Brugada Panel
Brugada Syndrome
Brugada Syndrome (BrS) - 13 gene NGS panel
Brugada syndrome (Brugada Syndrom)
Brugada Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 16 genes)
Brugada syndrome (NGS panel for 7 genes)
Brugada syndrome (sequence analysis of GPD1L gene)
Brugada Syndrome 1
Brugada syndrome 1 (sequence analysis of SCN5A gene)
Brugada Syndrome 1 Test
Brugada Syndrome 1 via the SCN5A Gene
Brugada Syndrome 2
Brugada Syndrome 2 Test
Brugada Syndrome 3
Brugada syndrome 3 (sequence analysis of CACNA1C gene)
Brugada Syndrome 3 Test
Brugada Syndrome 4
Brugada syndrome 4 (sequence analysis of CACNB2 gene)
Brugada Syndrome 4 Test
Brugada Syndrome 5
Brugada Syndrome 5 Test
Brugada Syndrome 6
Brugada syndrome 6 (sequence analysis of KCNE3 gene)
Brugada Syndrome 6 Test
Brugada Syndrome 7
Brugada syndrome 7 (sequence analysis of SCN3B gene)
Brugada Syndrome 7 Test
Brugada Syndrome 8
Brugada syndrome 8 (sequence analysis of HCN4 gene)
Brugada Syndrome 8 Test
Brugada Syndrome Deletion/Duplication Panel
Brugada Syndrome Gene Set
Brugada Syndrome Multi-Gene Panel, Blood
Brugada Syndrome Multi-Gene Panels
Brugada Syndrome NGS Panel
Brugada Syndrome Panel
Brugada Syndrome Sequencing Panel
Brugada syndrome type 1
Brugada syndrome type 1 (deletion/duplication analysis of SCN5A gene)
Brugada Syndrome Type 1 , Sequencing SCN5A Gene
Brugada Syndrome Type 1 Test
Brugada syndrome type 2
Brugada Syndrome Type 2 , Sequencing GPD1L Gene
Brugada syndrome type 3
Brugada Syndrome Type 3, Sequencing CACNA1C Gene
Brugada syndrome type 4
Brugada syndrome type 5
Brugada syndrome type 6
Brugada syndrome type 7
Brugada syndrome type 8
Brugada syndrome type 9
Brugada Syndrome Types 2, 5, 7
Brugada Syndrome via the CACNA2D1 Gene
Brugada Syndrome via the CACNB2 Gene
Brugada Syndrome via the GPD1L Gene
Brugada Syndrome via the KCND3 Gene
Brugada Syndrome via the KCNE3 Gene
Brugada Syndrome via the RANGRF Gene
Brugada Syndrome via the SCN1B Gene
Brugada Syndrome via the SCN3B Gene
Brugada Syndrome via the SLMAP Gene
Brugada Syndrome, Panel Massive Sequencing (NGS) 8 Genes
Brugada Syndrome: Deletion/Duplication Panel
Brugada Syndrome: SCN5A gene
Brugada Syndrome: Sequencing Panel
Brunner syndrome
Brunner syndrome (sequence analysis of MAOA gene)
Brunner Syndrome Test
Brunner Syndrome: MAOA Gene Deletion/Duplication
Brunner Syndrome: MAOA Gene Sequencing
Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Full Gene Sequence and Flow Cytometry
Bruton Tyrosine Kinase (BTK) Genotype and Protein Analysis, Known Mutation Sequencing and Flow Cytometry
Bruton Tyrosine Kinase (BTK) Genotype, Full Gene Sequence
Bruton Tyrosine Kinase (BTK) Genotype, Known Mutation
BRWD1
BRWD3
BSCL2
BSCL2 Sequencing
BSCL2-Related Neurologic Disorders/Seipinopathy Test
BSDC1
BSG
BSN
BSND
BSND Full Gene Sequencing Analysis
BSND Gene Sequencing
BSND Sequencing
BSPH1
BST1
BST2
BTAF1
BTBD10
BTBD16
BTBD17
BTBD18
BTBD19
BTBD3
BTBD6
BTBD7
BTBD8
BTBD9
BTC
BTD
BTD Del/Dup
BTD Deletion/Duplication Analysis
BTD Gene Sequencing
BTD KFM Sequence Analysis
BTD Prenatal Sequence Analysis
BTD Prenatal Sequence Analysis (GeneAware)
BTD Sequence Analysis
BTD Sequence and Deletion/Duplication Analysis
BTF3L4
BTG2
BTG4
BTK
BTK Del/Dup
BTK Deletion/duplication analysis
BTK Gene Sequencing
BTK Gene Sequencing and Del/Dup
BTK Sequencing
BTLA
BTN1A1
BTN2A1
BTN2A2
BTN3A1
BTN3A2
BTN3A3
BTNL10
BTNL2
BTNL3
BTNL8
BTNL9
BTRC
BUB1
BUB1B
BUD13
BUD31
Budd-Chiari syndrome
Budd-Chiari syndrome (Budd-Chiari Syndrom)
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS)
Buschke-Ollendorff syndrome (sequence analysis of LEMD3 gene)
Buschke-Ollendorff Syndrome Test
Butterfly-Shaped Pigmentary Macular Dystrophy 2 Test (the PRPH2 gene - entire)
Butyrylcholinesterase deficiency
Butyrylcholinesterase Deficiency (BCHE)
Butyrylcholinesterase deficiency (sequence analysis of BCHE gene)
Butyrylcholinesterase Deficiency Test
Butyrylcholinesterase Deficiency via the BCHE Gene
Butyrylcholinesterase Deficiency, Sequencing BCHE Gene
Butyrylcholinesterase Deficiency: BCHE gene
BVES
Byler Disease (ATP8B1 gene) AKA Progressive Familial Intrahepatic Cholestasis Old Order Amish targeted mutation analysis
BZRAP1
BZW1
BZW2
 

C 

C syndrome
C syndrome (sequence analysis of CD96 gene)
C Syndrome Test
c-KIT by NGS
c-KIT mutation analysis exon 17
c-KIT mutation analysis exon 8,9,11,13
C10orf10
C10orf107
C10orf11
C10orf113
C10orf12
C10orf120
C10orf128
C10orf131
C10orf2
C10orf2 (Twinkle) Sequence analysis
C10orf2 Deletion/Duplication Analysis
C10ORF2 Full Gene Sequencing Analysis
C10ORF2 MLPA Duplication/Deletion Analysis
C10orf2 Sequence and Deletion/Duplication Analysis
C10orf2-Related Ataxia Neuropathy Spectrum Disorders Test
C10orf2-related mitochondrial DNA depletion syndrome test
C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form Test
C10orf25
C10orf35
C10orf53
C10orf54
C10orf62
C10orf67
C10orf71
C10orf76
C10orf82
C10orf88
C10orf90
C10orf91
C10orf99
C11orf1
C11orf16
C11orf21
C11orf24
C11orf30
C11orf40
C11orf42
C11orf44
C11orf45
C11orf52
C11orf53
C11orf54
C11orf57
C11orf58
C11orf63
C11orf65
C11orf70
C11orf71
C11orf73
C11orf74
C11orf84
C11orf85
C11orf86
C11orf87
C11orf88
C11orf94
C11orf98
C12orf10
C12orf29
C12orf40
C12orf42
C12orf43
C12orf45
C12orf50
C12orf54
C12orf56
C12orf57
C12orf60
C12ORF65
C12orf65 Deletion/Duplication Analysis
C12orf65 Familial Mutation/Variant Analysis
C12orf65 Prenatal Sequence Analysis
C12orf65 Sequence Analysis
C12orf65 Sequence and Del/Dup Analysis
C12orf65-Associated Optic Atrophy via the C12orf65 Gene
C12orf66
C12orf71
C12orf74
C12orf76
C12orf77
C12orf80
C14orf1
C14orf105
C14orf119
C14orf132
C14orf142
C14orf159
C14orf166
C14orf169
C14orf177
C14orf178
C14orf2
C14orf37
C14orf79
C14orf80
C14orf93
C15orf32
C15orf39
C15orf40
C15orf41
C15orf41 Deletion/duplication analysis
C15orf41 Gene Sequencing
C15orf43
C15orf48
C15orf53
C15orf54
C15orf56
C15orf57
C15orf59
C15orf61
C15orf62
C16orf45
C16orf46
C16orf47
C16orf57 (USB1) Deletion/duplication analysis
C16orf57 (USB1) Gene Sequencing
C16orf58
C16orf59
C16orf62
C16orf70
C16orf71
C16orf72
C16orf78
C16orf82
C16orf86
C16orf87
C16orf90
C16orf91
C16orf92
C16orf96
C16orf97
C17orf100
C17orf102
C17orf104
C17orf105
C17orf112
C17orf47
C17orf50
C17orf51
C17orf53
C17orf58
C17orf62
C17orf64
C17orf67
C17orf74
C17orf75
C17orf78
C17orf80
C17orf97
C17orf98
C17orf99
C18orf21
C18orf25
C18orf32
C18orf42
C18orf54
C18orf63
C18orf8
C19orf12
C19ORF12 Gene Sequencing
C19orf18
C19orf25
C19orf33
C19orf38
C19orf44
C19orf45
C19orf47
C19orf53
C19orf57
C19orf60
C19orf66
C19orf71
C19orf73
C19orf80
C1GALT1
C1GALT1C1
C1GALT1C1L
C1orf100
C1orf101
C1orf105
C1orf109
C1orf111
C1orf112
C1orf116
C1orf123
C1orf127
C1orf131
C1orf137
C1orf141
C1orf146
C1orf158
C1orf159
C1orf162
C1orf168
C1orf174
C1orf186
C1orf189
C1orf194
C1orf195
C1orf204
C1orf21
C1orf210
C1orf216
C1orf226
C1orf228
C1orf234
C1orf35
C1orf43
C1orf50
C1orf52
C1orf54
C1orf56
C1orf61
C1orf64
C1orf68
C1orf74
C1orf87
C1orf94
C1q deficiency
C1q Deficiency Panel
C1QA
C1QB
C1QBP
C1QC
C1QL2
C1QTNF1
C1QTNF3
C1QTNF5
C1QTNF6
C1QTNF7
C1QTNF9
C1QTNF9B
C1QTNF9B-AS1
C1R
C1RL
C1S
C2
C2 deficiency
C2 deficiency (sequence analysis of C2 gene)
C2 Sequencing
C20orf141
C20orf144
C20orf173
C20orf194
C20orf195
C20orf196
C20orf197
C20orf202
C20orf24
C20orf27
C20orf78
C20orf85
C20orf96
C21orf140
C21orf2
C21orf33
C21orf59
C21ORF59 - Primary Ciliary Dyskinesia-26, CILD26
C21orf91
C22orf15
C22orf24
C22orf29
C22orf31
C22orf39
C22orf42
C22orf46
C2CD2L
C2CD3
C2CD5
C2orf16
C2orf40
C2orf42
C2orf44
C2orf48
C2orf49
C2orf57
C2orf61
C2orf66
C2orf68
C2orf69
C2orf70
C2orf71
C2orf71 Deletion/Duplication Analysis
C2orf71 Familial Mutation/Variant Analysis
C2orf71 Prenatal Sequence Analysis
C2orf71 Sequence Analysis
C2orf71 Sequence and Deletion/Duplication Analysis
C2orf71-Related Retinitis Pigmentosa Test
C2orf73
C2orf74
C2orf76
C2orf78
C2orf80
C2orf81
C2orf83
C2orf88
C2orf91
C3
C3 deficiency
C3 Deletion/duplication analysis
C3 Gene Sequencing
C3 Sequence analysis
C3 Sequencing
C3-Related Atypical Hemolytic-Uremic Syndrome Test
C3AR1
C3orf14
C3orf17
C3orf18
C3orf20
C3orf22
C3orf30
C3orf33
C3orf35
C3orf36
C3orf38
C3orf52
C3orf56
C3orf58
C3orf62
C3orf67
C3orf70
C3orf84
C4A
C4BPA
C4BPB
C4orf17
C4orf19
C4orf22
C4orf26
C4orf3
C4orf33
C4orf36
C4orf45
C4orf47
C4orf51
C5
C5 deficiency
C5AR1
C5AR2
C5orf15
C5orf22
C5orf24
C5orf28
C5orf30
C5orf34
C5orf38
C5orf42
C5orf45
C5orf46
C5orf51
C5orf52
C5orf58
C5orf60
C5orf63
C5orf64
C5orf66
C6
C6orf1
C6orf10
C6orf106
C6orf118
C6orf120
C6orf141
C6orf15
C6orf163
C6orf201
C6orf203
C6orf222
C6orf229
C6orf25
C6orf47
C6orf48
C6orf58
C6orf62
C6orf89
C7
C7 deficiency
C7 Deletion/duplication analysis
C7 Gene Sequencing
C7orf25
C7orf26
C7orf31
C7orf33
C7orf43
C7orf49
C7orf55
C7orf57
C7orf60
C7orf61
C7orf62
C7orf65
C7orf66
C7orf71
C7orf72
C7orf73
C7orf76
C7orf77
C8A
C8B
C8G
C8ofr37 Deletion/Duplication Analysis
C8ofr37 Sequence and Deletion/Duplication Analysis
C8orf22
C8orf31
C8orf33
C8orf37
C8orf37 Familial Mutation/Variant Analysis
C8orf37 Prenatal Sequence Analysis
C8orf37 Sequence Analysis
C8orf37-Related Retinitis Pigmentosa Test
C8orf4
C8orf44
C8orf44-SGK3
C8orf48
C8orf58
C8orf59
C8orf74
C8orf86
C8orf87
C8orf89
C9
C9orf106
C9orf114
C9orf116
C9orf129
C9orf131
C9orf139
C9orf163
C9orf170
C9orf172
C9orf24
C9orf3
C9orf43
C9orf47
C9orf57
C9orf62
C9orf64
C9orf66
C9orf69
C9orf72
c9orf72 ALS/FTD
C9orf72 Hexanucleotide Repeat Analysis
C9ORF72 Repeat Expansion
C9orf72 Repeat Expansion Analysis
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Test
C9orf78
C9orf84
C9orf85
C9orf89
C9orf9
C9orf91
C9orf92
CA1
CA10
CA11
CA12
CA13
CA14
CA2
CA2 Deletion/Duplication Analysis
CA2 Familial Mutation/Variant Analysis
CA2 Gene Sequencing
CA2 Prenatal Sequence Analysis
CA2 Sequence Analysis
CA2 Sequence and Deletion/Duplication Analysis
CA2 Sequencing
CA3
CA4
CA4 Deletion/Duplication Analysis
CA4 Familial Mutation/Variant Analysis
CA4 Prenatal Sequence Analysis
CA4 Sequence Analysis
CA4 Sequence and Deletion/Duplication Analysis
CA4-Related Retinitis Pigmentosa Test
CA6
CA7
CA8
CA9
CAAP1
CAB39
CAB39L
CABC1 Deletion/Duplication Analysis
CABC1 Sequence and Deletion/Duplication Analysis
CABC1 Sequence KFM Analysis
CABC1 Sequence PND Analysis
CABC1-Related Coenzyme Q10 Deficiency Test
Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene
CABIN1
CABP2
CABP4
CABP4 Deletion/Duplication Analysis
CABP4 Familial Mutation/Variant Analysis
CABP4 Gene Sequencing
CABP4 Prenatal Sequence Analysis
CABP4 Sequence Analysis
CABP4 Sequence and Deletion/Duplication Analysis
CABS1
CABYR
CACFD1
CACHD1
CACNA1A
CACNA1A Copy Number Analysis
CACNA1A Full Gene Sequencing Analysis
CACNA1A Gene Detection of Trinucleotide Repeats
CACNA1A Gene Sequencing
CACNA1C
CACNA1C Gene Sequencing
CACNA1C-related Disorders: CACNA1C Gene Deletion/Duplication
CACNA1C-related Disorders: CACNA1C Gene Sequencing
CACNA1D
CACNA1E
CACNA1F
CACNA1F Gene Sequencing
CACNA1F-Related X-Linked Congenital Stationary Night Blindness Test
CACNA1G
CACNA1H
CACNA1I
CACNA1S
CACNA1S Deletion/duplication Analysis
CACNA1S Full Gene Sequencing Analysis
CACNA1S Gene Sequencing
CACNA1S-Related Malignant Hyperthermia Susceptibility Test
CACNA2D1
CACNA2D1 Gene Sequencing
CACNA2D3
CACNA2D4
CACNB1
CACNB2
CACNB2 Gene Sequencing
CACNB3
CACNB4
CACNB4 Full Gene Sequencing Analysis
CACNB4-Related Juvenile Myoclonic Epilepsy Test
CACNG1
CACNG2
CACNG3
CACNG4
CACNG5
CACNG7
CACTIN
CACUL1
CACYBP
CAD
CADASIL
CADASIL (sequence analysis of exons 1, 7-10, 12-33 of NOTCH3 gene)
CADASIL (sequence analysis of exons 2 to 6 and 11 of NOTCH3 gene)
CADASIL (sequence analysis of NOTCH3 gene)
CADASIL /CARASIL (CADASIL /CARASIL)
Cadasil Disease (Exon 3, 4, 5, 6)
CADASIL syndrome (NOTCH3 sequencing)
CADASIL Syndrome, Deletions-Duplications (MLPA) NOTCH3 Gene
CADASIL Syndrome, Sequencing Exons (2,5,6,11) NOTCH 3 Gene
CADASIL Syndrome, Sequencing Exons (3-4) NOTCH 3 Gene
CADASIL Syndrome, Sequencing NOTCH3 Gene
CADASIL Test
CADASIL [Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy
CADASIL: NOTCH3 gene
CADM1
CADM2
CADPS
CADPS2
Caffey Disease
Caffey Disease Test
CAG Expansion detection in the AR gene (SBMA)
CAG Expansion detection in the ATN1 gene (DRPLA) gene
CAG Expansion detection in the ATXN1 gene
CAG Expansion detection in the ATXN2 gene
CAG Expansion detection in the ATXN2 gene by TP-PCR
CAG Expansion detection in the ATXN3 gene
CAG Expansion detection in the ATXN7 gene
CAG Expansion detection in the ATXN7 gene by TP-PCR
CAG Expansion detection in the ATXN8 gene
CAG Expansion detection in the CACNA1A gene
CAG Expansion detection in the PPP2R2B gene
CAG Expansion detection in the TBP gene
CAGE1
CALB1
CALB2
CALCA
CALCB
Calcium metabolism associated disease (Kalzium Metabolismus assoziierte Erkrankungen)
CALCOCO1
CALCOCO2
CALCR
CALCRL
CALD1
CALHM1
CALHM2
CALM1
CALM1 Gene Sequencing
CALM2
CALM3
CALML4
CALML5
CALML6
CALN1
Calpainopathy
Calpainopathy Test
CALR
CALR gene (sequence analysis of exon 9)
CALR Mutation Analysis
CALR Mutations (analysis of exon 9) - Essential Thrombocythemia
CALR-Related Essential Thrombocythemia
CALR3
CALR3 Gene Sequencing
Calreticulin, Exon 9 Mutation Analysis
CALU
CAMK1
CAMK1G
CAMK2A
CAMK2D
CAMK2G
CAMK4
CAMKK1
CAMKK2
CAMKV
CAMLG
CAMP
Campomelic Dysplasia
Campomelic dysplasia (CMPD)
Campomelic dysplasia (deletion/duplication analysis of SOX9 gene)
Campomelic dysplasia (sequence analysis of SOX9 gene)
Campomelic Dysplasia , Sequencing SOX9 Gene
Campomelic Dysplasia Test
Campomelic Dysplasia Test (the SOX9 gene - entire)
Campomelic Dysplasia Test (the SOX9 gene - exon: 1 )
Campomelic Dysplasia Test (the SOX9 gene - exons: 2,3)
Campomelic Dysplasia, Deletions-Duplications (MLPA) SOX9 Gene
Camptodactyly, Tall Stature, and Hearing Loss Syndrome (CATSHL Syndrome)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (sequence analysis of PRG4 gene)
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, Sequencing PRG4 Gene
CAMSAP1
CAMSAP2
CAMTA1
CAMTA2
Camurati-Engelmann disease
Camurati-Engelmann Disease (CED) via the TGFB1 Gene
Camurati-Engelmann disease (sequence analysis TGFB1 of gene)
Camurati-Engelmann Disease Test
Camurati-Engelmann Disease, Sequencing Selected Exons TGFB1 Gene
Camurati-Engelmann Disease: TGFB1 gene (exon 4) screening
Canavan disease
Canavan Disease (ASPA), 4 Variants
Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene
Canavan disease (deletion/duplication analysis on ASPA gene)
Canavan Disease (see Ashkenazi Jewish Screening Panel)
Canavan disease (sequence analysis of ASPA gene)
Canavan Disease Genetic Analysis (ASPA Gene)
Canavan Disease Mutation
Canavan Disease Test
Canavan Disease Test (ASPA)
Canavan Disease Test (the ASPA gene - exons: 4,5)
Canavan Disease, Deletions-Duplications (MLPA) ASPA Gene
Canavan Disease, Sequencing ASPA Gene
Canavan disease: Full gene sequencing (Rapid testing)
Cancer Exome sequencing (71 Mb)
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes
Cancer Predisposition
Cancer Sequencing and Deletion/Duplication Panel
Cancer Test (genetic predisposition) - the CHEK2 gene mutation carrier test (1100delC or IVS2+1G>A)
Cancer-genetic Predisposition Test - the CHEK2 gene mutation carrier (I157T)
Cancer: Lynch Syndrome (Hereditary Non-Polyposis Colon Cancer) Multi-Gene Panel
CancerNext
CancerNext - Expanded
CAND1
CAND2
Candidate gene sequencing
Candidiasis, familial (NGS panel for 5 genes)
Candidiasis, familial 2 AR (sequence analysis of CARD9 gene)
Candidiasis, familial 4 AR (sequence analysis of CLEC7A gene)
Candidiasis, familial 5 AR (sequence analysis of IL17RA gene)
Candidiasis, familial 6 AD (sequence analysis of IL17F gene)
Candidiasis, familial 8 (sequence analysis of TRAF3IP2 gene)
CANDLE Syndrome via the PSMB8 Gene
CANT1
Cantu Syndrome
Cantu syndrome (sequence analysis of KCNJ8 gene)
Cantu Syndrome NGS Panel
Cantu Syndrome via the ABCC9 Gene
Cantu Syndrome, KCNJ8-Related
Cantu syndrome (sequence analysis of ABCC9 gene)
CANX
CAP1
CAP2
CAPG
Capillary malformation arteriovenous malformation (CMAVM)
Capillary malformation-arteriovenous malformation
Capillary Malformation-Arteriovenous Malformation Syndrome, Deletions-Duplications RASA1 Gene
Capillary Malformation-Arteriovenous Malformation Syndrome, Sequencing RASA1 Gene
CAPN1
CAPN10
CAPN11
CAPN12
CAPN13
CAPN14
CAPN15
CAPN2
CAPN3
CAPN3 Full Gene Sequencing Analysis
CAPN3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis
CAPN3 MLPA Duplication/Deletion Analysis
CAPN5
CAPN7
CAPN8
CAPN9
CAPNS2
CAPOS syndrome
CAPRIN1
CAPRIN2
CAPS
CAPS2
CAPSL
CAPZA1
CAPZA2
CAPZA3
CAPZB
CARASIL
CARASIL syndrome (sequence analysis of HTRA1 gene)
CARASIL Syndrome, Sequencing HTRA1 Gene
CARASIL Test
Carbamoyl Phosphate Sythetase I (CPS1) Prenatal
Carbamoylphosphate Synthetase I Deficiency
Carbamoylphosphate synthetase I deficiency (sequence analysis of CPS1 gene)
Carbamoylphosphate Synthetase I Deficiency Test
Carbamylphosphate Synthase I (CPS1)
Carbohydrate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 64 genes + mtDNA)
Carbohydrate Metabolism Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 11 genes)
Carcinoid tumors, intestinal
CARD10
CARD11
CARD14
CARD15/NOD2 Gene Sequencing
CARD16
CARD17
CARD18
CARD6
CARD8
CARD9
CARD9 Deletion/duplication analysis
CARD9 Gene Sequencing
Cardiac Arrhythmia Exome Panel
Cardiac Channelopathy Panel
Cardiac conduction changes (NGS panel for 27 genes)
Cardiac Conduction System Related Disorders, Panel Massive Sequencing (NGS) 21 Genes
Cardiac defect, developmental (Herzentwicklungsstörungen)
Cardiac Diseases Panel
Cardiac DNA Inisight
Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked (CVD1)
Cardio-Facio-Cutaneous Syndrome NGS Panel
Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene
Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene
Cardio-Facio-Cutaneous Syndrome: BRAF gene sequence analysis
Cardio-Facio-Cutaneous Syndrome: MAP2K1 gene sequence analysis
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (sequence analysis of SCO2 gene)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome (Cardiofaciocutanes Syndrom)
Cardiofaciocutaneous syndrome (sequence analysis of BRAF gene)
Cardiofaciocutaneous syndrome (sequence analysis of MAP2K1 gene)
Cardiofaciocutaneous syndrome (sequence analysis of MAP2K2 gene)
Cardiofaciocutaneous Syndrome NGS Panel
Cardiofaciocutaneous Syndrome Test
Cardiofaciocutaneous Syndrome Type 1, Sequencing BRAF Gene
Cardiofaciocutaneous Syndrome Type 2, Sequencing KRAS Gene
Cardiofaciocutaneous syndrome type 3
Cardiofaciocutaneous Syndrome Type 3, Sequencing MAP2K1 Gene
Cardiofaciocutaneous syndrome type 4
Cardiofaciocutaneous Syndrome Type 4, Sequencing MAP2K2 Gene
Cardiofaciocutaneous Syndrome, MAP2K2-related: MAP2K2 Gene Deletion/Duplication
Cardiofaciocutaneous Syndrome, MAP2K2-related: MAP2K2 Gene Sequencing
Cardiofaciocutaneous Syndrome, Panel Massive Sequencing (NGS) 6 Genes
CardioGene Set
Cardiology Genetic Panel (Full), Panel Massive Sequencing (NGS) 110 Genes
Cardiomyopathies Del/Dup Panel
Cardiomyopathies, Comprehensive Diagnostics
Cardiomyopathy (41 Gene) Panel
Cardiomyopathy (Dilated) Multi-Gene Panels
Cardiomyopathy (General) Multi-Gene Panels
Cardiomyopathy (Hypertrophic) Multi-Gene Panels
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel of 36 genes)
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
Cardiomyopathy and changes in cardiac conduction (NGS panel of 59 genes)
Cardiomyopathy dilated 1C (sequence analysis of LDB3 gene)
Cardiomyopathy dilated panel
Cardiomyopathy Exome Panel
Cardiomyopathy familial dilated (CMD1DD, sequence analysis of RBM20 gene)
Cardiomyopathy Gene Set
Cardiomyopathy hypertrophic (sequence analysis of MYBPC3 gene)
Cardiomyopathy hypertrophic (sequence analysis of TNNT2 gene)
Cardiomyopathy Hypertrophic Panel
Cardiomyopathy in the Context of Neuromuscular Disease
Cardiomyopathy Panel
Cardiomyopathy, apical hypertrophic, and neuropathy, MT-ATP8 related
Cardiomyopathy, Arrhythmogenic Right Ventricular (ARVC)
Cardiomyopathy, Dilated
Cardiomyopathy, Dilated (DCM)
Cardiomyopathy, dilated (Kardiomyopathie, dilatativ)
Cardiomyopathy, dilated 1AA (sequence analysis of ACTN2 gene)
Cardiomyopathy, dilated 1CC (sequence analysis of NEXN gene)
Cardiomyopathy, dilated 1D (sequence analysis of TNNT2 gene)
Cardiomyopathy, dilated 1L (sequence analysis of SGCD gene)
Cardiomyopathy, dilated 1M (sequence analysis of CSRP3 gene)
Cardiomyopathy, dilated 1O (sequence analysis of ABCC9 gene)
Cardiomyopathy, dilated 1P (sequence analysis of PLN gene)
Cardiomyopathy, dilated 1R (sequence analysis of ACTC1 gene)
Cardiomyopathy, dilated 1T (sequence analysis of TMPO gene)
Cardiomyopathy, dilated 1W (sequence analysis of VCL gene)
Cardiomyopathy, dilated 1Y (sequence analysis of TPM1 gene)
Cardiomyopathy, dilated 1Z (sequence analysis of TNNC1 gene)
Cardiomyopathy, dilated 2B (sequence analysis of GATAD1 gene)
Cardiomyopathy, Dilated Panel
Cardiomyopathy, dilated type 1
Cardiomyopathy, dilated type 1A
Cardiomyopathy, dilated type 1AA
Cardiomyopathy, dilated type 1BB
Cardiomyopathy, dilated type 1C
Cardiomyopathy, dilated type 1CC
Cardiomyopathy, dilated type 1D
Cardiomyopathy, dilated type 1DD
Cardiomyopathy, dilated type 1E
Cardiomyopathy, dilated type 1EE
Cardiomyopathy, dilated type 1G
Cardiomyopathy, dilated type 1GG
Cardiomyopathy, dilated type 1HH
Cardiomyopathy, dilated type 1I
Cardiomyopathy, dilated type 1J
Cardiomyopathy, dilated type 1KK
Cardiomyopathy, dilated type 1L
Cardiomyopathy, dilated type 1LL
Cardiomyopathy, dilated type 1M
Cardiomyopathy, dilated type 1N
Cardiomyopathy, dilated type 1O
Cardiomyopathy, dilated type 1P
Cardiomyopathy, dilated type 1R
Cardiomyopathy, dilated type 1S
Cardiomyopathy, dilated type 1T
Cardiomyopathy, dilated type 1U
Cardiomyopathy, dilated type 1V
Cardiomyopathy, dilated type 1W
Cardiomyopathy, dilated type 1X
Cardiomyopathy, dilated type 1Y
Cardiomyopathy, dilated type 1Z
Cardiomyopathy, dilated type 2A
Cardiomyopathy, dilated type 2B
Cardiomyopathy, dilated type 3B
Cardiomyopathy, dilated with ataxia
Cardiomyopathy, dilated with hypergonadotropic hypogonadism
Cardiomyopathy, dilated with woolly hair and keratoderma
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma Test
Cardiomyopathy, familial hypertrophic
Cardiomyopathy, familial hypertrophic 8 (sequence analysis of MYL3 gene)
Cardiomyopathy, familial hypertrophic (CMH19, sequence analysis of CALR3 gene)
Cardiomyopathy, familial hypertrophic 10 (sequence analysis of MYL2 gene)
Cardiomyopathy, familial hypertrophic 16 (sequence analysis of MYOZ2 gene)
Cardiomyopathy, familial hypertrophic 17 (sequence analysis of JPH2 gene)
Cardiomyopathy, familial hypertrophic 3 (sequence analysis of TPM1 gene)
Cardiomyopathy, familial hypertrophic type 1
Cardiomyopathy, familial hypertrophic type 10
Cardiomyopathy, familial hypertrophic type 11
Cardiomyopathy, familial hypertrophic type 12
Cardiomyopathy, familial hypertrophic type 16
Cardiomyopathy, familial hypertrophic type 17
Cardiomyopathy, familial hypertrophic type 19
Cardiomyopathy, familial hypertrophic type 2
Cardiomyopathy, familial hypertrophic type 3
Cardiomyopathy, familial hypertrophic type 4
Cardiomyopathy, familial hypertrophic type 6
Cardiomyopathy, familial hypertrophic type 7
Cardiomyopathy, familial hypertrophic type 8
Cardiomyopathy, familial hypertrophic type 9
Cardiomyopathy, familial restrictive type 1
Cardiomyopathy, fatal, MT-TI related
Cardiomyopathy, Hypertrophic
Cardiomyopathy, hypertrophic (Kardiomyopathie, hypertroph)
Cardiomyopathy, Hypertrophic Panel
Cardiomyopathy, hypertrophic, midventricular, digenic
Cardiomyopathy, hypertrophic, midventricular, digenic (sequence analysis of MYLK2 gene)
Cardiomyopathy, hypertrophic, MT-TG related
Cardiomyopathy, hypertrophic, type 18
Cardiomyopathy, hypertrophic, type 24
Cardiomyopathy, idiopathic dilated, mitochondrial, MT-TH related
Cardiomyopathy, infantile hypertrophic, MT-ATP8 related
Cardiomyopathy, Restrictive Panel
Cardiomyopathy: Deletion/Duplication Panel
Cardiomyopathy: Sequencing and Deletion/Duplication Panel
Cardiomyopathy: Sequencing Panel
CardioNext -Inherited Cadiovascular Panel
Cardiovascular disease panel
Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE))
Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE)) Test
Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1) Test
Cardiovascular Disease Risk Factor (Angiotensinogen) Test
Cardiovascular Disease Risk Factor (Apolipoprotein E)
Cardiovascular Disease Risk Factor (Apolipoprotein E) Test
CARF
Carney Complex
Carney Complex (CNC) via the PRKAR1A Gene
Carney Complex Test
Carney complex type 1
Carney complex type 1 (sequence analysis of PRKAR1A gene)
Carney Complex Variant (sequence analysis of MYH8 gene)
Carney Syndrome Type 1, Sequencing PRKAR1A Gene
Carnitine deficiency
Carnitine deficiency (NGS panel for 6 genes)
Carnitine Deficiency (OCTN2)
Carnitine Deficiency, Primary (Carnitine Uptake Defect): SLC22A5 Gene Deletion/Duplication
Carnitine Deficiency, Primary (Carnitine Uptake Defect): SLC22A5 Gene Sequencing
Carnitine deficiency, systemic primary (deletion/duplication analysis on SLC22A5 gene)
Carnitine deficiency, systemic primary (sequence analysis of SLC22A5 gene)
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Mutation (p.Ser113Leu) CPT2 Gene
Carnitine Palmitoyl Transferase Deficiency Type 2 (Myopathic Form), Sequencing CPT2 Gene
Carnitine Palmitoyl Transferase Deficiency Type IA, Sequencing CPT1A Gene
Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency
Carnitine palmitoyltransferase 1A deficiency
Carnitine Palmitoyltransferase 1A Deficiency (CPT1A analysis for a known point mutation)
Carnitine Palmitoyltransferase 1A Deficiency (CPT1A sequence analysis)
Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Deletion/Duplication
Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Sequencing
Carnitine palmitoyltransferase 1B deficiency
Carnitine palmitoyltransferase 2 deficiency, infantile
Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
Carnitine Palmitoyltransferase IA Deficiency
Carnitine palmitoyltransferase IA deficiency (sequence analysis of CPT1A gene)
Carnitine Palmitoyltransferase IA Deficiency Test
Carnitine palmitoyltransferase IB deficiency (sequence analysis of CPT1B gene)
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II deficiency (sequence analysis of CPT2 gene)
Carnitine Palmitoyltransferase II deficiency associated myopathy: Full gene sequencing (Rapid testing)
Carnitine Palmitoyltransferase II Deficiency Test
Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Deletion/Duplication
Carnitine Palmitoyltransferase II Deficiency: CPT2 Gene Sequencing
Carnitine Trasporter Deficiency, SL
Carnitine Type 1 Deficiency: CPT1A gene screening
Carnitine Type 1 Deficiency: CPT1A gene sequence analysis
Carnitine-Acylcarnitine Translocase
Carnitine-acylcarnitine translocase (CACT) deficiency: Full gene sequencing (Rapid testing)
Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase deficiency (sequence analysis of SLC25A20 gene)
Carnitine-Acylcarnitine Translocase Deficiency Test
Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis
Carnitine-Acylcarnitine Translocase Deficiency, Sequencing SLC25A20 Gene
Carnitine-Acylcarnitine Translocase Deficiency: SLC25A20 Gene Deletion/Duplication
Carnitine-Acylcarnitine Translocase Deficiency: SLC25A20 Gene Sequencing
CARNMT1
Carotid intimal medial thickness type 1
Carpenter Syndrome
Carpenter syndrome (sequence analysis of RAB23 gene)
Carpenter Syndrome , Sequencing RAB23 Gene
Carpenter Syndrome 1 Test
Carpenter syndrome type 2
Carpenter syndrome type 2 (sequence analysis of MEGF8 gene)
Carrier heterozygous deletion detection in the SMN1 gene
Carrier Screening Panel: Ashkenazi Jewish
CARS
CARS2
Cartilage Hair Hypoplasia RMRP-KFM
Cartilage Hair Hypoplasia RMRP-PRNTL
Cartilage Hair Hypoplasia-RMRP
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia (CHH)
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene
Cartilage-Hair Hypoplasia (RMRP gene) Old Order Amish targeted mutation analysis
Cartilage-Hair Hypoplasia (RMRP)
Cartilage-Hair Hypoplasia , Sequencing RMRP Gene
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders Test
CARTPT
Carvajal syndrome (sequence analysis of DSP gene)
Carvajal Syndrome, Sequencing DSP Gene
CASC1
CASC3
CASC4
CASC5
CASC5 Gene Sequencing
CASD1
CASK
CASK deletion/duplication
CASK Gene Sequence and Deletion/Duplication Analysis
CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via the CASK Gene
CASK sequencing
CASK-Related Disorders Test
CASK-related XLID: CASK Gene Deletion/Duplication
CASK-related XLID: CASK Gene Sequencing
CASP1
CASP10
CASP10 Deletion/duplication analysis
CASP10 Gene Sequencing
CASP12
CASP14
CASP2
CASP3
CASP4
CASP5
CASP6
CASP8
CASP8 Del/Dup
CASP8 deletion/duplication analysis
CASP8 Gene Sequencing
CASP8AP2
CASP9
Caspase 8 deficiency syndrome (sequence analysis of CASP8 gene)
CASQ1
CASQ2
CASQ2 Full Gene Sequencing
CASQ2 Gene Sequencing
CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Test
CASR
CASR Del/Dup
CASR Gene Sequencing
CASR Gene, Full Gene Analysis
CASR Sequencing
CASR-related disorder test
CASR-Related Disorders
CASR-Related Disorders Test
CASR-Related Familial Isolated Hypoparathyroidism Test
CASS4
CAST
CAT
Cat Eye Syndrome Test
Cataract
Cataract (Katarakt)
Cataract 1, multiple types (sequence analysis of GJA8 gene)
Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene
Cataract 11, multiple types
Cataract 13 with adult i phenotype (sequence analysis of GCNT2 gene)
Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene
Cataract 17, multiple types (sequence analysis of CRYBB1 gene)
Cataract 18, AR (sequence analysis of FYCO1 gene)
Cataract 19 (sequence analysis of LIM2 gene)
Cataract 22, AR (sequence analysis of CRYBB3 gene)
Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene
Cataract 23 (CTRCT23) via the CRYBA4 Gene
Cataract 23 (sequence analysis of CRYBA4 gene)
Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene
Cataract 36 (sequence analysis of TDRD7 gene)
Cataract 38, AR (sequence analysis of AGK gene)
Cataract 40, X-linked (sequence analysis of NHS gene)
Cataract 5, multiple types (sequence analysis of HSF4 gene)
Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene
Cataract 9, multiple types (sequence analysis of CRYAA gene)
Cataract Panel
Cataract Type 11 via the PITX3 Gene
Cataract type 12 (sequence analysis of BFSP2 gene)
Cataract type 17, multiple types
Cataract Type 2 (CTRCT2) via the CRYGC Gene
Cataract type 23
Cataract Type 39 via the CRYGB Gene
Cataract type 41
Cataract, Age-Related Cortical, 2 Test
Cataract, autosomal dominant
Cataract, Autosomal Dominant, Multiple Types 1 Test
Cataract, autosomal recessive congenital nuclear type 2
Cataract, autosomal recessive congenital type 1
Cataract, autosomal recessive congenital type 2
Cataract, autosomal recessive congenital type 4
Cataract, autosomal recessive type 38
Cataract, congenital, associated with Marinesco-Sjogren Syndrome
Cataract, cortical pulverulent, late-onset
Cataract, lamellar
Cataract, Polymorphic and Lamellar Test
Cataract, pulverulent or cerulean, with or without microcornea
Cataract, X-linked
Cataract-microcornea syndrome
Cataracts (NGS panel of 41 genes)
Cataracts with facial dysmorphism and neuropathy
Cataracts with facial dysmorphism and neuropathy (sequence analysis CTDP1 gene)
Catechol-o-methyltransferase deficiency
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) - 6 gene NGS panel
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel
Catecholaminergic Polymorphic Ventricular Tachycardia , Sequencing CASQ2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia , Sequencing Selected Exons RYR2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia Deletion/Duplication Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Multi-Gene Panels
Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel
Catecholaminergic polymorphic ventricular tachycardia panel
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Test
Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 gene
Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene
Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene
Catecholaminergic Polymorphic Ventricular Tachycardia, Panel Massive Sequencing (NGS) 14 Genes
Catecholaminergic Polymorphic Ventricular Tachycardia, Sequencing RYR2 Gene
Catel-Manzke Syndrome (CATMANS)
CATIP
CATSPER1
CATSPER2
CATSPER3
CATSPER4
CATSPERB
CATSPERD
CATSPERG
Caudal regression syndrome (sequence analysis of VANGL1 gene)
Caudal Regression Syndrome, Sequencing VANGL1 Gene
CAV1
CAV3
CAV3 Full Gene Sequencing
CAV3 Full Gene Sequencing Analysis
CAV3 Gene Sequencing
CAV3 Known Mutation Analysis
CAV3-Related Sudden Infant Death Syndrome
CAV3-Related Sudden Infant Death Syndrome Test
Caveolinopathies
Caveolinopathies (sequence analysis of CAV3)
Caveolinopathies Test
Caveolinopathy via the CAV3 Gene
CBFA2T2
CBFB
CBL
cbl E complementation type homocystinuria-megaloblastic anemia: Full gene sequencing (Rapid testing)
cbl G complementation type homocystinuria-megaloblastic anemia: Full gene sequencing (Rapid testing)
CBL Gene Sequencing
CBL-Related Disorders via the CBL Gene
CBL/NRAS Gene Sequencing
CBLB
cblB complement type Vitamin B-12 responsive methylmalonic aciduria (due to defect in synthesis of adenosylcobalamin): Full gene sequencing (Rapid testing)
cblC Test
cblD (variant 1) Test
cblD (variant 2) Test
cblD complement type homocystinuria (Variant 1): Full gene sequencing (Rapid testing)
cblD complement type homocystinuria (Variant 2): Full gene sequencing (Rapid testing)
cblD complement type Methylmalonic aciduria and homocystinuria: Full gene sequencing (Rapid testing)
cblD Test
cblF Test
cblG Test
cblJ Type Methylmalonic aciduria and homocystinuria: Full gene sequencing (Rapid testing)
CBLL1
CBLN1
CBLN2
CBLN3
CBLN4
CBR1
CBR3
CBS
CBS Del/Dup
CBS Deletion/Duplication Analysis
CBS Familial Mutation/Variant Analysis
CBS Gene Sequencing
CBS Prenatal Sequence Analysis
CBS Sequence Analysis
CBS Sequence and Deletion/Duplication Analysis
CBS-related homocystinuria test
CBWD1
CBWD2
CBX1
CBX2
CBX4
CBX5
CBX6
CBX8
CBY1
CBY3
CC2D1A
CC2D1B
CC2D2A
CC2D2A Gene Sequencing
CC2D2A-Related Joubert Syndrome Test
CC2D2A-Related Meckel Syndrome Test
CC2D2B
CCAR1
CCAR2
CCBE1
CCBE1 Gene Sequencing
CCBL1
CCBL2
CCDC102B
CCDC103
CCDC103 - Primary Ciliary Dyskinesia, CILD17
CCDC105
CCDC106
CCDC107
CCDC108
CCDC110
CCDC112
CCDC113
CCDC114
CCDC114 - Primary Ciliary Dyskinesia-20, CILD20
CCDC115
CCDC116
CCDC12
CCDC120
CCDC121
CCDC122
CCDC124
CCDC125
CCDC126
CCDC127
CCDC129
CCDC13
CCDC130
CCDC134
CCDC136
CCDC138
CCDC14
CCDC141
CCDC142
CCDC144A
CCDC144NL
CCDC146
CCDC148
CCDC149
CCDC15
CCDC150
CCDC151
CCDC151 - Ciliary Dyskinesia, Primary 30
CCDC152
CCDC153
CCDC154
CCDC155
CCDC157
CCDC158
CCDC159
CCDC160
CCDC167
CCDC168
CCDC169
CCDC169-SOHLH2
CCDC17
CCDC170
CCDC171
CCDC172
CCDC173
CCDC175
CCDC178
CCDC18
CCDC182
CCDC183
CCDC184
CCDC185
CCDC186
CCDC189
CCDC190
CCDC191
CCDC22
CCDC24
CCDC25
CCDC27
CCDC28B
CCDC30
CCDC33
CCDC36
CCDC38
CCDC39
CCDC39 - Primary Ciliary Dyskinesia, CILD14
CCDC40
CCDC40 - Primary Ciliary Dyskinesia, CILD15
CCDC42
CCDC43
CCDC47
CCDC50
CCDC51
CCDC54
CCDC57
CCDC58
CCDC59
CCDC60
CCDC62
CCDC63
CCDC65
CCDC65 - Primary Ciliary Dyskinesia-27, CILD27
CCDC66
CCDC67
CCDC68
CCDC69
CCDC7
CCDC70
CCDC71
CCDC74A
CCDC74B
CCDC77
CCDC78
CCDC79
CCDC8
CCDC80
CCDC81
CCDC82
CCDC83
CCDC84
CCDC85A
CCDC86
CCDC87
CCDC88A
CCDC88B
CCDC88C
CCDC89
CCDC90B
CCDC91
CCDC92
CCDC93
CCDC94
CCDC96
CCDC97
CCER1
CCER2
CCHCR1
CCIN
CCK
CCKAR
CCKBR
CCL1
CCL11
CCL13
CCL14
CCL15
CCL16
CCL17
CCL18
CCL19
CCL2
CCL21
CCL22
CCL23
CCL24
CCL26
CCL27
CCL28
CCL3
CCL4
CCL5
CCL7
CCL8
CCM Del/Dup Panel
CCM Tier 1
CCM Tier 2
CCM2
CCM2 Del/Dup
CCM2 Gene Sequencing
CCNA1
CCNA2
CCNB1
CCNB1IP1
CCNB2
CCNB3
CCNC
CCND1
CCND2
CCND3
CCNDBP1
CCNE1
CCNE2
CCNF
CCNG1
CCNG2
CCNH
CCNI
CCNI2
CCNJ
CCNL1
CCNL2
CCNO
CCNO - Primary Ciliary Dyskinesia-29, CILD29
CCNT1
CCNT2
CCNY
CCP110
CCPG1
CCR1
CCR2
CCR3
CCR4
CCR5
CCR6
CCR7
CCR8
CCR9
CCRL2
CCS
CCSER1
CCSER2
CCT2
CCT3
CCT5
CCT6A
CCT6B
CCT7
CCT8L2
CCTG Expansion detection in the CNBP gene
CD101
CD109
CD14
CD151
CD151 Deletion/duplication analysis
CD151 Gene Sequencing
CD160
CD163
CD163L1
CD164L2
CD177
CD180
CD19
CD19 Deletion/duplication analysis
CD19 Gene Sequencing
CD1A
CD1B
CD1C
CD1D
CD1E
CD2
CD200
CD200R1
CD200R1L
CD207
CD209
CD22
CD226
CD24
CD244
CD247
CD248
CD27
CD27 Deletion/duplication analysis
CD27 Gene Sequencing
CD274
CD276
CD28
CD2AP
CD2AP Gene Sequencing
CD2AP Sequencing
CD2BP2
CD300A
CD300C
CD300E
CD300LB
CD300LD
CD300LG
CD302
CD320
CD33
CD34
CD36
CD37
CD38
CD3D
CD3D Deletion/duplication analysis
CD3D Gene Sequencing
CD3E
CD3E Deletion/duplication analysis
CD3E Gene Sequencing
CD3EAP
CD3G
CD4
CD40
CD40 Gene Sequencing
CD40LG
CD40LG Del/Dup
CD40LG Deletion/duplication analysis
CD40LG Gene Sequencing
CD44
CD46
CD46 (MCP) Sequence analysis
CD46-Related Atypical Hemolytic-Uremic Syndrome Test
CD47
CD48
CD5
CD53
CD55
CD58
CD59
CD5L
CD63
CD68
CD69
CD70
CD72
CD74
CD79A
CD79B
CD80
CD81
CD81 Deletion/duplication analysis
CD81 Gene Sequencing
CD82
CD83
CD84
CD86
CD8A
CD8B
CD9
CD93
CD96
CDA
CDAN1
CDAN1 Deletion/duplication analysis
CDAN1 Gene Sequencing
CDC123
CDC14A
CDC16
CDC20
CDC20B
CDC23
CDC25A
CDC25B
CDC25C
CDC27
CDC37
CDC40
CDC42
CDC42BPA
CDC42BPB
CDC42BPG
CDC42EP2
CDC42EP4
CDC42SE1
CDC45
CDC5L
CDC6
CDC6 Gene Sequencing
CDC7
CDC73
CDC73 (HRPT2) Gene Sequencing
CDC73 (HRPT2) Del/Dup
CDC73 (HRPT2) Remaining Exons Sequencing
CDC73 (HRPT2) Select Exons Sequencing
CDC73 Gene Sequencing
CDC73 Gene Sequencing and Del/Dup
CDC73-Related Disorders
CDC73-Related Disorders Test
CDC73-Related Disorders via the CDC73 Gene
CDCA2
CDCA3
CDCA4
CDCA5
CDCA7
CDCA7L
CDCA8
CDCP1
CDCP2
CDG Panel
CDH1
CDH1 Deletion/Duplication Analysis
CDH1 Sequencing
CDH1 Sequencing, exon specific
CDH10
CDH11
CDH12
CDH13
CDH15
CDH16
CDH17
CDH18
CDH19
CDH1 Gene, Full Gene Analysis
CDH2
CDH20
CDH23
CDH23 Deletion/duplication analysis
CDH23 Gene Sequencing
CDH24
CDH26
CDH3
CDH4
CDH5
CDH6
CDH7
CDH8
CDH9
CDHR1
CDHR1 Deletion/Duplication Analysis
CDHR1 Familial Mutation/Variant Analysis
CDHR1 Prenatal Sequence Analysis
CDHR1 Sequence Analysis
CDHR1 Sequence and Deletion/Duplication Analysis