DNA Diagnostic Laboratory at Johns Hopkins  
Home     Available Tests     Submission     Forms     Announcements     Links     Contact Us    


Search for Tests by Syndrome Name

Syndrome Name (click to visit test web page)

Gene(s) Tested
Achondroplasia FGFR3*
Adrenoleukodystrophy (X-Linked) ABCD1
Albright Hereditary Osteodystrophy GNAS
Aneurysm Osteoarthritis Syndrome - See Loeys-Dietz Syndrome Type 1C
Antley Bixler-like Syndrome FGFR2*
Apert Syndrome FGFR2*
Aplastic Anemia TERTTR
Ataxia Telangiectasia ATM
Autism - See Macrocephaly/Autism Syndrome
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) PTEN
Becker Muscular Dystrophy -   See Duchenne Muscular Dystrophy
Benign Hereditary Chorea NKX2-1
Beta Globin Structural Variants HBB
Beta Thalassemia or    
     Beta Globin 619 bp deletion (target)
HBB
Brain-Lung-Thyroid Syndrome (see Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress )
Campomelic Dysplasia SOX9
Childhood Interstitial Lung Disease Multiple genes offered as a panel
Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress (Brain-Lung-Thyroid Syndrome) NKX2-1    (see test panels including this gene)
Craniofrontonasal Syndrome EFNB1
Coronal Synostosis FGFR2; FGFR3*
Cowden Syndrome PTEN
Crouzon Syndrome  FGFR2; FGFR3*
Crouzon Syndrome with Acanthosis Nigricans FGFR3*
Cystic Fibrosis (Classic and Non-Classic)
     CFTR Intron 8 T and TG repeat lengths

     CF Linkage
     Preimplantation Genetic Diagnosis (PGD)

   Non-Classic Cystic Fibrosis-like phenotype


CFTR

 

SCNN1B

Duchenne Muscular Dystrophy
     Linkage Analysis
DMD
Dyskeratosis Congenita (autosomal dominant) TERT;  TR
FGFR-Related Craniosynostosis -   Click here for a Summary Table
Huntington Disease HTT
Huntington Disease-Like 2 (HDL2) JPH3
Hyperalphalipoproteinemia (High HDL cholesterol) SCARB1*
Hypochondroplasia FGFR3*
Idiopathic Pulmonary Fibrosis TERT;  TR
Infantile Refsum Disease - see Zellweger Spectrum Disorders
Jackson-Weiss Syndrome FGFR2;  FGFR3*
Liddle Syndrome SCNN1B;  SCNN1G
Loeys-Dietz Aneurysm Syndrome TGFBR1;  TGFBR2*
Loeys-Dietz Syndrome Type 1C
    (Aneurysm Osteoarthritis Syndrome)
SMAD3
Marfan Syndrome, Type 2 TGFBR2*
Macrocephaly/Autism Syndrome PTEN
Neonatal Adrenoleukodystrophy - see Zellweger Spectrum Disorders
Neonatal Respiratory Distress / Pulmonary Alveolar Proteinosis Multiple genes offered as a panel
Non-Classic Cystic Fibrosis-like phenotype SCNN1B
Oculodentodigital Dysplasia (ODDD) GJA1
Pfeiffer Syndrome FGFR1;  FGFR2;  FGFR3*
Progesterone Deficient Female Infertility SCARB1*
Proteus Syndrome and Proteus-Like Syndrome PTEN
Pseudohypoaldosteronism, Type 1, Autosomal Dominant NR3C2
Pseudohypoaldosteronism, Type 1, Autosomal Recessive SCNN1A;  SCNN1B;  SCNN1G
Pseudohypoparathyroidism, Type 1A (PHP1A), Pseudopseudohypoparathyroidism (PPHP) GNAS
Pseudohypoparathyroidism Type 1b GNAS
Pulmonary Alveolar Proteinosis Multiple genes offered as a panel
Rhizomelic Chondrodysplasia Punctata, Type I PEX7*
Saethre-Chotzen Syndrome TWIST;  FGFR2;  FGFR3*
Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans (SADDAN) FGFR3*
Sickle Cell Anemia HBB*
Surfactant Deficiency, ABCA3-related (Pulmonary Surfactant Metabolism Dysfinction 3) ABCA3    (see test panels including this gene)
Surfactant Protein B Deficiency (Pulmonary Surfactant Metabolism Dysfunction 1) SFTPB    (see test panels including this gene)
Surfactant Protein C Deficiency (Pulmonary Surfactant Metabolism Dysfunction 2) SFTPC    (see test panels including this gene)
Thanatophoric Dysplasia, Types I and II FGFR3*
Treacher Collins Syndrome TCOF1
POLR1C
POLR1D
von Hippel Lindau Syndrome VHL
 Zellweger Spectrum Disorders PEX1;  PEX2;  PEX6; PEX10;  PEX12;  PEX26*

* Select exons may be sequenced - see individual test page for details