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Search for Tests by Syndrome Name

Syndrome Name (click to visit test web page)

Gene(s) Tested
Acatalasemia CAT       (see all Peroxisomal Disease Panels)
Achondroplasia FGFR3*
Adrenoleukodystrophy (X-Linked) ABCD1
Albright Hereditary Osteodystrophy GNAS
Alpha Methylacyl-CoA Racemase Deficiency AMACR     (see all Peroxisomal Disease Panels)
Aneurysm Osteoarthritis Syndrome - See Loeys-Dietz Syndrome Type 1C
Antley Bixler-like Syndrome FGFR2*
Apert Syndrome FGFR2*
Aplastic Anemia TERT, TR (TERC)
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 ABCA3, NKX2-1, SFTPC
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
   CFTR Sequencing plus del/dup
    CFTR Intron 8 T and TG repeat lengths

     CF Linkage

(See all Cystic Fibrosis panels)
Cystic Fibrosis and CF-Related Disorders CFTR, SCNN1A, SCNN1B, SCNN1G, CA12           (See all Cystic Fibrosis panels)
CF-Related Disorders (excludes CFTR) SCNN1A, SCNN1B, SCNN1G, CA12          (See all Cystic Fibrosis panels)
Duchenne Muscular Dystrophy
     Linkage Analysis
Dyskeratosis Congenita (autosomal dominant) TERT, TR (TERC)
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 (TERC)
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
Mulibrey Nanism TRIM37     (see all Peroxisomal Disease Panels)
Neonatal Adrenoleukodystrophy - see Zellweger Spectrum Disorders
Neonatal Respiratory Distress / Pulmonary Alveolar Proteinosis ABCA3, NKX2-1, SFTPB, SFTCP 
Oculodentodigital Dysplasia (ODDD) GJA1
Peroxisomal Beta-Oxidation Defects Panel ACOX1, HSD17B4, SCP2     (see all Peroxisomal Disease Panels)
Peroxisomal Diseases, Comprehensive ACOX1, AGPS, AMACR, AGXT, CAT, DNM1L, GNPAT, HSD17B4, PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PHYH, SCP2, TRIM37     (see all Peroxisomal Disease Panels)
Pfeiffer Syndrome FGFR1;  FGFR2;  FGFR3*
Primary Hyperoxaluria Type 1 AGXT    (see all Peroxisomal Disease Panels)
Progesterone Deficient Female Infertility SCARB1*
Proteus Syndrome and Proteus-Like Syndrome PTEN
Pseudohypoaldosteronism (PHA) Type 1 NR3C2, SCNN1A, SCNN1B;  SCNN1G
Pseudohypoparathyroidism, Type 1A (PHP1A), Pseudopseudohypoparathyroidism (PPHP) GNAS
Pseudohypoparathyroidism Type 1b GNAS
Pulmonary Alveolar Proteinosis Multiple genes offered as a panel
Refsum Disease Panel PHYH; PEX7     (see all Peroxisomal Disease Panels)
Rhizomelic Chondrodysplasia Punctata (RCDP) PEX7, GNPAT, AGPS     (see all Peroxisomal Disease Panels)
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 DNM1L; PEX1;  PEX2;  PEX3; PEX5; PEX6; PEX10;  PEX12; PEX13, PEX14; PEX16; PEX19; PEX26     
(see all Peroxisomal Disease Panels)
Zellweger Spectrum Disorders + Peroxisomal Beta-Oxidation Defects ACOX1; DNM1L; HSD17B4; PEX1;  PEX2;  PEX3; PEX5; PEX6; PEX10;  PEX12; PEX13, PEX14; PEX16; PEX19; PEX26; SCP2        (see all Peroxisomal Disease Panels)

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