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Results: 1 to 20 of 38 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy with Prominent Contractures Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1712
  • C Sequence analysis of the entire coding region

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1712
  • D Deletion/duplication analysis

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3026
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
3224
  • D Deletion/duplication analysis

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

Minicore myopathy with external ophthalmoplegia

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

SEPN1, RYR1. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
22
  • C Sequence analysis of the entire coding region

ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
45
  • C Sequence analysis of the entire coding region

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MYOPATHY CONGENITAL MULTICORE WITH EXTERNAL OPHTALMOPLEGIA (MULTIMINICORE)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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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