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Results: 1 to 20 of 27 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

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

Myopathy due to Integrin 7A deficiency

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

Comprehensive Neuromuscular Sequencing Panel

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

Integrin Alpha 7-Related Congenital Myopathy Testing via the ITGA7 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Muscular Dystrophy Sequencing Panel

PreventionGenetics
United States
3327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Comprehensive Panel

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

Congenital Muscular Dystrophy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5825
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
3723
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
167113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Muscular Dystrophy Panel

Invitae
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
4946
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYSTROPHIES, CONGENITAL MUSCULAR

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2112
  • C Sequence analysis of the entire coding region

Muscular dystrophy, congenital, due to ITGA7 deficiency (sequence analysis of ITGA7 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Muscular Dystrophies Panel

CeGaT GmbH
Germany
3732
  • C Sequence analysis of the entire coding region

ITGA7

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15479
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy: Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
3115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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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