U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 21 to 40 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

Weyers acrodental dysostosis, 193530, Autosomal dominant (Acrofacial dysostosis, Weyers type) (EVC gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Weyers acrodental dysostosis, 193530, Autosomal dominant (Acrofacial dysostosis, Weyers type) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Weyers acrofacial dysostosis, 193530, Autosomal dominant; WAD (Acrofacial dysostosis, Weyers type) (EVC2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Weyers acrofacial dysostosis, 193530, Autosomal dominant; WAD (Acrofacial dysostosis, Weyers type) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Weyers acrofacial dysostosis, 193530, Autosomal dominant; WAD (Acrofacial dysostosis, Weyers type) (EVC2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Weyers acrodental dysostosis, 193530, Autosomal dominant (Acrofacial dysostosis, Weyers type) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

SkeletalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
6423
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, Part of Exact Sciences
United States
177163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypospadias Panel

PreventionGenetics, Part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia and skeletal ciliopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia and skeletal ciliopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
5253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 40 of 78

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.