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Results: 1 to 20 of 60

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • D Deletion/duplication analysis

Congenital Myopathy with Prominent Contractures Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1813
  • C Sequence analysis of the entire coding region

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1813
  • D Deletion/duplication analysis

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4227
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
4126
  • D Deletion/duplication analysis

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
119111
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Central core disease of muscle

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

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Core Myopathy Sequencing Panel

PreventionGenetics
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RYR1. Complete sequencing

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

RYR1. Sequencing of the exons 1-17, 39-48 and 90-104

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

RYR1. NextGeneDx.Sequencing by NGS of the exons 1-17, 39-48 and 90-104

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

Malignant Hyperthermia Susceptibility Sequencing Panel

PreventionGenetics
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RYR1-Related Congenital Myopathies via the RYR1 Gene

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

Centronuclear Myopathy Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Fiber Type Disproportion Sequencing Panel

PreventionGenetics
United States
57
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 60

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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