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Results: 21 to 40 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myofibrillar myopathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Invitae
United States
5836
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Nemaline Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
5842
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

α-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene

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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Nemaline myopathy panel. NGS panel of 11 genes.

Genologica Medica
Spain
1511
  • C Sequence analysis of the entire coding region

Congenital Myopathies (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
855
  • C Sequence analysis of the entire coding region

Myopathy Panel, Congenital

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3317
  • C Sequence analysis of the entire coding region

Neuromuscular Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13862
  • C Sequence analysis of the entire coding region

Nemaline myopathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1411
  • C Sequence analysis of the entire coding region

Intranuclear Rod Myopathy (ACTA1 Single Gene Test)

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy NGS Panel

Fulgent Genetics
United States
18661
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital myopathy

Institute of Human Genetics Cologne University
Germany
74
  • C Sequence analysis of the entire coding region

Results: 21 to 40 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.