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Search for Tests by Gene Name

Gene Name Associated Syndrome(s) (click to visit test web page)
ABCA3 ABCA3-related Surfactant Deficiency (Pulmonary Surfactant Metabolism Dysfunction 3)
    
(see test panels including this gene)
ABCD1 X-Linked Adrenoleukodystrophy
ATM Ataxia Telangiectasia
CFTR Cystic Fibrosis (Classic and Non-Classic)
CFTR Intron 8 T and TG repeat lengths
CF Linkage
Preimplantation Genetic Diagnosis (PGD)
DMD Duchenne Muscular Dystrophy / Becker Muscular Dystrophy: 
      Linkage Analysis
EFNB1 Craniofrontonasal Syndrome
FGFR1 Pfeiffer Syndrome
FGFR2 Antley Bixler-like Syndrome
Apert Syndrome
Coronal Synostosis
Crouzon Syndrome                         
Jackson-Weiss Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome
Click here for a Summary Table of FGFR-related test panels for craniosynostosis
FGFR3 Skeletal Dysplasias
Achondroplasia
Hypochondroplasia
Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans (SADDAN)
Thanatophoric Dysplasia, Types I and II

Craniosynostosis Syndromes
Crouzon Syndrome
Crouzon Syndrome with Acanthosis Nigricans
Coronal Synostosis
Jackson-Weiss Syndrome
Pfeiffer Syndrome
Saethre-Chotzen Syndrome  

GJA1 Oculodentodigital Dysplasia (ODDD)
GNAS Pseudohypoparathyroidism Type 1a (PHP 1a), Pseudopseudohypoparathyroidism (PPHP), Albright Hereditary Osteodystrophy (AHO)

Pseudohypoparathyroidism Type 1b (PHP1b)

HBB (-globin) Beta Thalassemia
Beta Globin Structural Variants
Beta Globin 619 bp deletion
Sickle Cell Anemia
HTT Huntington Disease
JPH3 Huntington Disease-Like 2 (HDL2)
NKX2-1 Benign Hereditary Chorea          (see test panels including this gene)
Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress (Brain-Lung-Thyroid Syndrome)
NR3C2 Pseudohypoaldosteronism, Type 1, Autosomal Dominant
PEX7 Rhizomelic Chondrodysplasia Punctata, Type I
PEX1, PEX2, PEX6, PEX10, PEX12, PEX26 Zellweger Spectrum Disorders
POLR1C Treacher Collins Syndrome
POLR1D Treacher Collins Syndrome
PTEN Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Cowden Syndrome
Macrocephaly/Autism Syndrome

Proteus Syndrome and Proteus-Like Syndrome
SCARB1 Hyperalphalipoproteinemia (elevated HDL-C)
Progesterone Deficient Female Infertility
SCNN1A Pseudohypoaldosteronism, Type 1, autosomal recessive
SCNN1B Liddle Syndrome
Non-Classic Cystic Fibrosis-like phenotype
Pseudohypoaldosteronism Type 1, autosomal recessive
SCNN1G Liddle Syndrome
Pseudohypoaldosteronism, Type 1, autosomal recessive
SFTPB Surfactant Protein B Deficiency (Pulmonary Surfactant Metabolism Dysfunction 1)
     
(see test panels including this gene)
SFTPC Surfactant Protein C Deficiency (Pulmonary Surfactant Metabolism Dysfunction 2)
    
(see test panels including this gene)
SMAD3 Loeys-Dietz Syndrome Type 1C
SOX9 Campomelic Dysplasia
TCOF1 Treacher Collins Syndrome
TERT Aplastic Anemia
Dyskeratosis Congenita (Autosomal Dominant)
Idiopathic Pulmonary Fibrosis 
TGFBR1 Loeys-Dietz Aneurysm Syndrome
TGFBR2 Loeys-Dietz Aneurysm Syndrome
Marfan Syndrome, Type 2
TR (TERC) Aplastic Anemia
Dyskeratosis Congenita (Autosomal Dominant)
Idiopathic Pulmonary Fibrosis 
TWIST Saethre-Chotzen Syndrome
VHL von Hippel Lindau Syndrome

 

 

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