U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 7 of 7

Tests names and labsConditionsGenes, analytes, and microbesMethods

DNAJC3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Monogenic Diabetes Panel

PreventionGenetics, part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192, Autosomal recessive; ACPHD (Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome) (DNAJC3 gene) (Sequence Analysis-All Coding Exons)

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

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
362227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
294481
  • C Sequence analysis of the entire coding region

Monogenic Diabetes Panel

Genetic Services Laboratory University of Chicago
United States
1469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 7 of 7

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.