Tests

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

 
Test Type
Molecular (77)
Panel (5)
Test Method
Del/Dup (CNV) (10)
Methylation Analysis (2)
Mutation Scanning of Select Exons (3)
Sequencing, Capillary (Sanger) (51)
Repeat Expansion / Contraction (2)
Uniparental Disomy (4)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (37)
Carrier (59)
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) 
Androgen Insensitivity Syndrome (AR) Sequencing Test
disorder(s): Androgen Insensitivity Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) 
Angelman Syndrome Sequencing Test
disorder(s): Angelman Syndrome 
method(s): ◦ Sequencing, Capillary (Sanger) 
Angelman Syndrome Methylation Test
disorder(s): Angelman Syndrome 
method(s): ◦ Methylation Analysis 
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) 
Chromosome 7-Related Russell-Silver Syndrome Test
disorder(s): Chromosome 7-Related Russell-Silver Syndrome 
method(s): ◦ Uniparental Disomy 
Congenital Hypothyroidism, Nongoitrous 2 (PAX8) Test
disorder(s): Congenital Hypothyroidism, Nongoitrous 2 
method(s): ◦ Sequencing, Capillary (Sanger) 
DMD-Related Dilated Cardiomyopathy Test
disorder(s): DMD-Related Dilated Cardiomyopathy 
method(s): ◦ Del/Dup (CNV) 
Dystrophinopathies (DMD) Deletion Duplication Test
disorder(s): Dystrophinopathies 
method(s): ◦ Del/Dup (CNV) 
Early-Onset Primary Dystonia (DYT1) Test
disorder(s): Early-Onset Primary Dystonia (DYT1) 
method(s): ◦ Mutation Scanning of Select Exons 
Factor V Leiden Thrombophilia (F8) Test
disorder(s): Factor V Leiden Thrombophilia 
method(s): ◦ Mutation Scanning of Select Exons 
FMR1-Related Disorders Test
disorder(s): FMR1-Related Disorders 
method(s): ◦ Repeat Expansion / Contraction 
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Test
disorder(s): GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness 
method(s): ◦ Sequencing, Capillary (Sanger) 
Glucocorticoid Deficiency 1 (MC2R) Sequencing Test
disorder(s): Glucocorticoid Deficiency 1 
method(s): ◦ Sequencing, Capillary (Sanger) 
HFE-Associated Hereditary Hemochromatosis Test
disorder(s): HFE-Associated Hereditary Hemochromatosis 
method(s): ◦ Sequencing, Capillary (Sanger) 
 
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