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Results: 1 to 20 of 83

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal Weakness Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Peripheral Neuropathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Motor and Sensory Neuropathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
287
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

HARS1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

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

Invitae Usher Syndrome Panel

Invitae
United States
3217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease, axonal, type 2W, 616625, Autosomal dominant; CMT2W (HARS 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

Usher syndrome type 3B, 614504, Autosomal recessive; USH3B (Usher syndrome) (HARS 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Usher Syndrome

Amplexa Genetics Amplexa Genetics A/S
Denmark
115
  • S Mutation scanning of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Distal hereditary motor neuropathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 83

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.