DNA Diagnostic Laboratory at Johns Hopkins  
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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)
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




Duchenne Muscular Dystrophy
     Linkage Analysis
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)
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
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