Tests

All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory

 

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Test Type
Molecular
Panel
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Methylation Analysis
Mutation Scanning of Select Exons
Repeat Expansion / Contraction
Sequencing, Capillary (Sanger)
Sequencing, Next Gen
Uniparental Disomy
Prenatal/Carrier
Prenatal
Carrier
Test
17-beta Hydroxysteroid Dehydrogenase III Deficiency (HSD17B3) Test
disorder(s): 17-beta Hydroxysteroid Dehydrogenase III Deficiency 
method(s): ◦ Sequencing, Capillary (Sanger) 
Achondroplasia (FGFR3) Test
disorder(s): Achondroplasia 
method(s): ◦ Sequencing, Capillary (Sanger) 
ACTH Deficiency (MC2R) Test
disorder(s): ACTH Deficiency 
method(s): ◦ Sequencing, Capillary (Sanger) 
Adrenal Insufficiency (TBX19) Sequencing Test
disorder(s):
method(s): ◦ Sequencing, Capillary (Sanger) 
Androgen Insensitivity Syndrome (AR) Sequencing Test
disorder(s): Androgen Insensitivity Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) 
Angelman Syndrome Methylation Test
disorder(s): Angelman Syndrome 
method(s): ◦ Methylation Analysis 
Angelman Syndrome Sequencing Test
disorder(s): Angelman Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) 
Angelman Syndrome Test
disorder(s): Angelman Syndrome 
method(s): ◦ Uniparental Disomy 
Aromatase Deficiency (CYP19A1) Sequencing Test
disorder(s): Aromatase Deficiency 
method(s): ◦ Sequencing, Capillary (Sanger) 
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate (FOXE1) Test
disorder(s): Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate 
method(s): ◦ Sequencing, Capillary (Sanger) 
Axenfeld-Rieger Syndrome, Type 1 (PITX2) Test
disorder(s): Axenfeld-Rieger Syndrome, Type 1 
method(s): ◦ Sequencing, Capillary (Sanger) 
Charcot-Marie-Tooth Neuropathy Type 1E (PMP22) Sequence Analysis
disorder(s): Charcot-Marie-Tooth Neuropathy Type 1E 
method(s): ◦ Sequencing, Capillary (Sanger) 
Chromosome 7-Related Russell-Silver Syndrome Test
disorder(s): Chromosome 7-Related Russell-Silver Syndrome 
method(s): ◦ Uniparental Disomy 
TAT: 4-6 weeks
price: contact lab
Congenital Heart Defects Panel
disorder(s): Congenital Heart Disease, Atrial Septal Defect CHARGE Syndrome  TBX5-Related Holt-Oram Syndrome Alagille Syndrome Supravalvular Aortic Stenosis 
method(s): ◦ Sequencing, Next Gen 
Congenital Hypothyroidism, Nongoitrous 2 (PAX8) Test
disorder(s): Congenital Hypothyroidism, Nongoitrous 2 
method(s): ◦ Sequencing, Capillary (Sanger) 
Connexin 30 Deletion Duplication (GJB6) Test
disorder(s): DFNA 1 Nonsyndromic Hearing Loss and Deafness DFNA 3 Nonsyndromic Hearing Loss and Deafness 
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
DMD-Related Dilated Cardiomyopathy Test
disorder(s): DMD-Related Dilated Cardiomyopathy 
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Duchenne Muscular Dystrophy (DMD) Sequencing Test
disorder(s): Duchenne Muscular Dystrophy 
method(s): ◦ Sequencing, Next Gen 
Dystrophinopathies (DMD) Deletion Duplication Test
disorder(s): Dystrophinopathies 
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Early-Onset Primary Dystonia (DYT1) Test
disorder(s): Early-Onset Primary Dystonia (DYT1) 
method(s): ◦ Mutation Scanning of Select Exons 
 
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