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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 all Surfactant Deficiency Panels)
ABCD1 X-Linked Adrenoleukodystrophy
ACOX1 Peroxisomal Beta-Oxidation Defects Panel
Zellweger Spectrum DIsorders + Peroxisomal Beta-Oxidation Defects Panel
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
AGPS Rhizomelic Chondrodysplasia Punctata
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
AGXT Primary Hyperoxaluria Type 1
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
AMACR Alpha Methylacyl-CoA Racemase Deficiency
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
ATM Ataxia Telangiectasia
CA12 Cystic Fibrosis (CFTR) and CF-Related Disorders (includes CFTR)
Cystic Fibrosis Related Disorders (excludes CFTR)
 (See all Cystic Fibrosis panels)
CAT Acatalasemia
Comprehensive Peroxisomal Genes Panel
 (see all Peroxisomal Disease Panels)
CFTR Cystic Fibrosis (Classic)
Cystic Fibrosis and CF-Related Disorders
(includes CFTR)

CFTR Intron 8 T and TG repeat lengths
CFTR Linkage Analysis
  (See all Cystic Fibrosis panels)
DMD Duchenne Muscular Dystrophy / Becker Muscular Dystrophy: 
      DMD Linkage Analysis
DNM1L Zellweger Spectrum Disorders (ZSD)
ZSD + Peroxisomal Beta-Oxidation Defects

Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
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)

GNPAT Rhizomelic Chondrodysplasia Punctata
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
HBB (-globin) Beta Thalassemia
Beta Globin Structural Variants
Beta Globin 619 bp deletion
Sickle Cell Anemia
HTT Huntington Disease
HSD17B4 Peroxisomal Beta-Oxidation Defects Panel
Zellweger Spectrum DIsorders + Peroxisomal Beta-Oxidation Defects Panel
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
JPH3 Huntington Disease-Like 2 (HDL2)
NKX2-1 Benign Hereditary Chorea      
Choreoathetosis, Hypothyroidism, Neonatal Respiratory Distress (Brain-Lung-Thyroid Syndrome)
   (See all Surfactant Deficiency Panels)
NR3C2 Pseudohypoaldosteronism, Type 1 (PHA1)
PEX7 Rhizomelic Chondrodysplasia Punctata
Refsum Disease
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels) 
PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 Zellweger Spectrum Disorders (ZSD)
ZSD + Peroxisomal Beta-Oxidation Defects

Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
PHYH Refsum Disease
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
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 (PHA1)

Cystic Fibrosis (CFTR) and CF-Related Disorders (includes CFTR)
Cystic Fibrosis Related Disorders (excludes CFTR)

  (See all Cystic Fibrosis panels)
SCNN1B Liddle Syndrome
Pseudohypoaldosteronism, Type 1 (PHA1)

Cystic Fibrosis (CFTR) and CF-Related Disorders (includes CFTR)
Cystic Fibrosis Related Disorders (excludes CFTR)

  (See all Cystic Fibrosis panels)
SCNN1G Liddle Syndrome
Pseudohypoaldosteronism, Type 1 (PHA1)

Cystic Fibrosis (CFTR) and CF-Related Disorders (includes CFTR)
Cystic Fibrosis Related Disorders (excludes CFTR)

  (See all Cystic Fibrosis panels)
SCP2 Peroxisomal Beta-Oxidation Defects Panel
Zellweger Spectrum DIsorders + Peroxisomal Beta-Oxidation Defects Panel
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
SFTPB Surfactant Protein B Deficiency (Pulmonary Surfactant Metabolism Dysfunction 1)   (See all Surfactant Deficiency Panels)
SFTPC Surfactant Protein C Deficiency (Pulmonary Surfactant Metabolism Dysfunction 2)  (See all Surfactant Deficiency Panels)
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 
TRIM37 Mulibrey Nanism
Comprehensive Peroxisomal Genes Panel
  (see all Peroxisomal Disease Panels)
TWIST Saethre-Chotzen Syndrome
VHL von Hippel Lindau Syndrome

 

 

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