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Results: 1 to 20 of 52 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy with Prominent Contractures Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1611
  • C Sequence analysis of the entire coding region

Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1611
  • D Deletion/duplication analysis

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2719
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
2517
  • D Deletion/duplication analysis

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
10143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myosin storage myopathy

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

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
10361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCM Panel (20 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4220
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
9853
  • 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

Cardiomyopathy Exome Panel

Northwest Clinical Genomics Laboratory University of Washington
United States
3275
  • C Sequence analysis of the entire coding region

Core Myopathy Sequencing Panel

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

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

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

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrophic Cardiomyopathy and other MYH7 -Related Disorders via the MYH7 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
2621
  • C Sequence analysis of the entire coding region

Distal Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
3117
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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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