U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Corneal Dystrophies Panel

Invitae
United States
6533
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Ectodermal dysplasia/short stature syndrome, 616029, Autosomal recessive; ECTDS (Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome) (GRHL2 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

Ectodermal dysplasia/short stature syndrome, 616029, Autosomal recessive; ECTDS (Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome) (GRHL2 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Autosomal Dominant Hearing Loss. 25-gene NGS panel.

Genologica Medica
Spain
4823
  • C Sequence analysis of the entire coding region

Non-syndromic hearing loss panel. 95-gene NGS panel.

Genologica Medica
Spain
14694
  • C Sequence analysis of the entire coding region

Hearing Loss, Comprehensive Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
14284
  • C Sequence analysis of the entire coding region

Dyskeratosis Congenita NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1814
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
248184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3640
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
123124
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.