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Results: 1 to 20 of 47 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Hereditary motor and sensory neuropathy, type IIC - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Hereditary motor and sensory neuropathy, type IIC, (HMSN2C) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

CMT2C

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Comprehensive Neuropathy Sequencing Panel

PreventionGenetics
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel

PreventionGenetics
United States
5041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth - Comprehensive Sequencing Panel

PreventionGenetics
United States
5445
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4634
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRPV4. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

TRPV4. Sequencing of the exons 5 and 6

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

Distal Hereditary Motor Neuropathy Sequencing Panel

PreventionGenetics
United States
2820
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRPV4 -related Disorders via the TRPV4 Gene

PreventionGenetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth Disease Type 2, Sequencing TRPV4 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel

LifeLabs Genetics
Canada
2318
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMT Advanced Evaluation - Nonprevalent Axonal

Athena Diagnostics Inc
United States
1311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
1010
  • C Sequence analysis of the entire coding region

CMT Advanced Evaluation - Nonprevalent

Athena Diagnostics Inc
United States
2521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
10070
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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.

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