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Results: 1 to 7 of 7

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

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

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
361224
  • 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
289481
  • 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

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