FMR1

OMIMHGNC

Synonym(s): FMRP, FRAXA, MGC87458, POF1, POF

Locus: Xq27.3

Protein: Fragile X mental retardation protein 1

 

Disorders

Tests

Test Type
Molecular (165)
Cytogenetic (1)
Multi-Gene Panel (75)
Multi-Method Panel (56)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (49)
Methylation Analysis (15)
Mutation Scanning of Entire Coding Region (7)
Sequencing, Capillary (Sanger) (26)
Genotyping (Microarray, Beads, etc.) (13)
Repeat Expansion / Contraction (71)
Sequencing, Next Gen (76)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (47)
Carrier (87)
Lab Location
USA(94)
Netherlands(2)
Canada(19)
Germany(14)
Portugal(8)
Bulgaria(2)
Singapore(1)
New Zealand(1)
Spain(6)
Brazil(1)
Chile(3)
Poland(4)
Turkey(2)
United Kingdom(1)
Greece(1)
Switzerland(1)
Iran, Islamic Republic of(1)
Austria(2)
Finland(2)
 
TAT: 4-8 weeks
price: contact lab
FMR1-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 4-8 weeks
price: contact lab
FMR1-Related Disorders Test
method(s): ◦ Methylation Analysis 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
FMR1-Related Disorders Test
method(s): ◦ Repeat Expansion / Contraction 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
TAT: 3-4 weeks
price: contact lab
AutismFirst (Autism Spectrum Disorders)
method(s): ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 1-2 weeks
price: contact lab
Fragile X DNA Analysis (FMR1 repeat analysis and FMR1 methylation analysis)
method(s): ◦ Methylation Analysis ◦ Sequencing, Capillary (Sanger) 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
FMR1-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
TAT: 1-2 weeks
price: contact lab
Fragile X syndrome
method(s): ◦ Repeat Expansion / Contraction 
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA
TAT: 2 weeks
price: contact lab
Fragile X by MS-PCR
method(s): ◦ Methylation Analysis 
Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital - Singapore, Singapore
TAT: 1 week
price: contact lab
FMR1-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA
TAT: 1-2 weeks
price: contact lab
FMR1-Related Disorders Test
method(s): ◦ Methylation Analysis 
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA
TAT: 7-10 days
price: contact lab
FMR1-Related Primary Ovarian Insufficiency (POI)
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 7-10 days
price: contact lab
Fragile X Syndrome
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
TAT: 8-10 weeks
price: contact lab
NGS Syndromic Autism Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 1-3 weeks
price: contact lab
FMR1-Related Disorders Test
method(s): ◦ Repeat Expansion / Contraction 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks
price: contact lab
NGS X-Linked Intellectual Disability (XLID) Panel (114 genes)
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
FMR1-Related Disorders Test
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
FMR1-Related Disorders Test
method(s): ◦ Methylation Analysis 
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada
FMR1-Related Disorders Test
method(s): ◦ Repeat Expansion / Contraction 
Children's Hospital of Eastern Ontario, Genetics Diagnostic Laboratory - Ottawa, Canada
Autism Spectrum Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Microarray (CGH-Oligo, SNP, BAC) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
FMR1-Related Disorders Test
method(s): ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
Fragile X Syndrome (FX) Test
method(s): ◦ Repeat Expansion / Contraction 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
TAT: 5-6 weeks
price: contact lab
Autism Spectrum Disorders Panel Test
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
Fragile X mental Retardation Syndrome Test (dynamic mutation prescreening)
method(s): ◦ Repeat Expansion / Contraction 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2 weeks
price: contact lab
FMR1 Genetic Testing
method(s): ◦ Repeat Expansion / Contraction 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 1-2 weeks
price: contact lab
Xpansion Interpreter® (AGG Interruption Analysis)
method(s): ◦ Repeat Expansion / Contraction 
Asuragen Clinical Laboratory - Austin, TX, USA
TAT: 1-2 weeks
price: contact lab
Fragile X DNA Analysis (CGG Repeat Analysis)
method(s): ◦ Repeat Expansion / Contraction 
Asuragen Clinical Laboratory - Austin, TX, USA
TAT: 1-2 weeks
price: contact lab
mPCR Fragile X Analysis
method(s): ◦ Methylation Analysis ◦ Del/Dup (CNV) 
Asuragen Clinical Laboratory - Austin, TX, USA
TAT: 4-5 weeks
price: contact lab
Fragile X Syndrome -FMR1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Fragile X Syndrome -FMR1 KFM Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Fragile X Syndrome -FMR1 Prenatal Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Fragile X Syndrome
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Fragile X Prenatal
method(s): ◦ Repeat Expansion / Contraction 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 1 week
price: contact lab
Fragile X Syndrome (PCR)
method(s): ◦ Repeat Expansion / Contraction 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-6 weeks
price: contact lab
Fragile X Syndrome (FMR1 PCR Triplet Repeat)
method(s): ◦ Repeat Expansion / Contraction 
Children's Hospital of Philadelphia, Division of Genomic Diagnostics - Philadelphia, PA, USA
FMR1-Related Primary Ovarian Insufficiency
method(s): ◦ Repeat Expansion / Contraction 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 2 weeks
price: contact lab
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Fragile X: FMR1 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Premature Ovarian Insufficiency: FMR1 CGG Repeat Analysis
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
Fragile X: CGG Repeat Analysis
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: contact lab
Infertility Panel: Female (Chromosomes, FMR1-related POF)
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 16-20 weeks
price: contact lab
Autism Panel: Tier 2
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Fragile X: FMR1 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Fragile X Syndrome
method(s): ◦ Repeat Expansion / Contraction 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
Fragile X Syndrome, Molecular Analysis
method(s): ◦ Repeat Expansion / Contraction 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: FMR1, KCNJ10, PAX6, PRPS1, SLC9A6
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 55 genes: SOD1, TARDBP, TMEM67, VAPB, VLDLR. ABCB7, ABHD12, ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B, KCNJ10, K
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: FMR1, KDM5C, KIF1A, SLC16A2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR.
method(s): ◦ Repeat Expansion / Contraction 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
Fragile X
method(s): ◦ Repeat Expansion / Contraction 
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
TAT: 2 weeks
price: contact lab
Fragile X Syndrome
method(s):
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
X-Linked Non-Specific ID Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Non-Specific ID SequencingPanel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Analysis of FMR1 Gene
method(s): ◦ Repeat Expansion / Contraction 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 5-6 weeks
price: contact lab
FMR1 Gene Detection of Trinucleotide Repeats and Southern Blot
method(s): ◦ Repeat Expansion / Contraction 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 4-6 weeks
price: contact lab
devSEEK Sequence Analysis for Neurodevelopment Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2 weeks
price: contact lab
FMR1 CGG Repeat Analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
FMR1 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 7-10 days
price: contact lab
Fragile X Syndrome
method(s): ◦ Repeat Expansion / Contraction 
Recombine - Livingston, NJ, USA
TAT: 1-2 weeks
price: contact lab
Fragile X (FMR1) with Reflex to Methylation Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Autism Spectrum Disorder Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Fragile X syndrome (FRAXA, FMR1 gene, conventional PCR)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Premature ovarian failure (FMR1 gene, msTP-PCR)
method(s): ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
CGC Genetics - Porto, Portugal
Premature ovarian failure (FMR1 gene, conventional PCR)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Fragile X syndrome (sequence analysis of FMR1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 7-10 days
price: contact lab
Fragile X Related Disorders
method(s): ◦ Repeat Expansion / Contraction 
Genomic Engenharia Molecular Ltda - Sao Paulo, Brazil
Fragile X Syndrome
method(s): ◦ Repeat Expansion / Contraction 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Fragile X Syndrome
method(s): ◦ Repeat Expansion / Contraction 
South West Thames Genetics Laboratory, St George's University of London - London, United Kingdom
TAT: 2 weeks
price: contact lab
Fragile X Syndrome Test
method(s): ◦ Del/Dup (CNV) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TP-PCR for FMR1, up to 200 CGG Repeats
method(s): ◦ Repeat Expansion / Contraction 
Laboratory of Molecular Cytogenetics, INTA, University of Chile - Santiago, Chile
TP-PCR for FMR1, up to 1300 CGG Repeats
method(s): ◦ Repeat Expansion / Contraction 
Laboratory of Molecular Cytogenetics, INTA, University of Chile - Santiago, Chile
Southern Blot analysis of FMR1
method(s): ◦ Repeat Expansion / Contraction 
Laboratory of Molecular Cytogenetics, INTA, University of Chile - Santiago, Chile
TAT: 3-5 weeks
price: contact lab
Brain Malformations / Neuronal Migration Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
X-Linked Mental Retardation
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Syndromic Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Atypical Parkinson Syndrome Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Parkinson all Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
FRAXA
method(s): ◦ Repeat Expansion / Contraction 
Laboratory of Molecular Diagnostics, Genetic Medicine, University Hospitals of Geneva - Geneva, Switzerland
TAT: 7-10 days
price: contact lab
Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
Oregon Health & Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Fragile X syndrome (FMR1 gene, msTP-PCR)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Fragile X tremor/ataxia syndrome (FXTAS, FMR1 gene, conventional PCR)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Fragile X tremor/ataxia syndrome (FXTAS, FMR1 gene, msTP-PCR)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
TAT: 4-5 weeks
price: contact lab
Fragile X
method(s): ◦ Repeat Expansion / Contraction 
Parseh Pathobiology & Genetics Laboratory - Tehran, Iran, Islamic Republic of
Fragile X: CGG Repeat Analysis
method(s): ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Fragile X: FMR1 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Fragile X: FMR1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
X-linked Intellectual Disability: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
X-linked Intellectual Disability: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Autism Spectrum Disorders: Gene Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Autism Spectrum Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-9 weeks
price: contact lab
Mental retardation, X-linked (NGS panel for 89 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Fragile X (FRAXA) Test
method(s): ◦ Repeat Expansion / Contraction 
GMDL Genica - Sofia, Bulgaria
FMR1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
FMR-1 Related Disorders Test
method(s): ◦ Repeat Expansion / Contraction 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 4-6 weeks
price: contact lab
AutismNext (Autism Spectrum Disorders)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 8-10 weeks
price: contact lab
Neurodevelopment -Expanded
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
TAT: 5-7 weeks
price: contact lab
IDNext - Intellectual Disability Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Inheritest NGS, Ashkenazi Jewish Ancestry Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
Inheritest NGS, Society Guided Panel
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Parkinson disease/Parkinsonism (NextGen Sequencing Panel and Copy Number Analysis; 75 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 734 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 577 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 109 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 99 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-6 Weeks
price: contact lab
Autism NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
FMR1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Fragile X
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
XLID NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 4 (SMA, CF, Fragile X, DMD)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 27 (Pan-ethnic Standard Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 106 (Comprehensive Jewish Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
FMR1-Related Disorder
method(s): ◦ Repeat Expansion / Contraction 
North York General Hospital, Molecular Genetics Laboratory - Toronto, Canada
Infertility Panel: Female
method(s): ◦ Chromosome Analysis ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 3-4 weeks
price: $690.00
Fragile X Syndrome via the FMR1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
X-Linked Intellectual Disability Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $390.00
Fragile X Syndrome or Premature Ovarian Failure (POF1) via FMR1 CGG Repeat Expansion
method(s): ◦ Methylation Analysis ◦ Repeat Expansion / Contraction 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $1,130.00
Fragile X Syndrome via the FMR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,940.00
X-Linked Intellectual Disability Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 10-12 weeks
price: $1,290.00
ExoNIM Autism Spectrum Disorders
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
NIMGenetics Genomics & Medicine. (New Integrated Medical Genetics). - Madrid, Spain
Autism (Autismus)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Fragile X syndrome (Fragiles X Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Fragile X syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Repeat Expansion / Contraction 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel, Copy Number Analysis; 330 Genes + mtDNA + HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Premature Ovarian Failure: FMR1 CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
Fragile X tremor/ataxia syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Premature ovarian failure type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction 
Centogene AG, Rare Disease Company - Rostock, Germany
Autism Spectrum Disorders (Expanded Panel), Panel Massive Sequencing (NGS) 100 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and HTT Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2 weeks
price: contact lab
FMR1 Repeat Expansion
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: $1,500.00
Fragile X (FMR1 CGG Repeat Analysis and Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction 
EvolveGene - St. Petersburg, FL, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 330 Genes + mtDNA + SCA and FRDA Repeat Expansion Analysis)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: ~2 weeks
price: $1,200.00
Female Fertility Panel (9 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,790.00
POF FertilityReady / Premature Ovarian Failure Panel (22 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,125.00
Fragile X CGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $800.00
Fragile X AGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,000.00
Fragile X CGG and AGG Repeat Analysis
method(s): ◦ Repeat Expansion / Contraction 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,500.00
Fragile X CGG and AGG Repeat Analysis and Sequencing
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: 4-5 weeks
price: contact lab
Mental retardation, X-linked panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
X-linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 103 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Syndromic autism panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Ataxia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
X-linked Mental Retardation Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Ataxia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
X-linked Mental Retardation Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 2 weeks
price: contact lab
GeneAware Complete Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Ashkenazi Jewish Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware ACMG/ACOG Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Basic Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA