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Results: 21 to 40 of 67

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myofibrillar myopathy and related disorders Deletion / Duplication panel

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

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

Pan Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
113106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrophic Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
6660
  • D Deletion/duplication analysis
  • 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 Muscular Dystrophy Panel

Invitae
United States
11452
  • D Deletion/duplication analysis

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Invitae Cardiomyopathy Comprehensive Panel

Invitae
United States
19882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Invitae
United States
239100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypertrophic Cardiomyopathy Panel

Invitae
United States
6930
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

FHL1-Myopathies via the FHL1 Gene

PreventionGenetics, part of Exact Sciences
United States
41
  • 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

Emery-Dreifuss muscular dystrophy panel. 6-gene NGS panel.

Genologica Medica
Spain
276
  • C Sequence analysis of the entire coding region

FHL1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
51
  • D Deletion/duplication analysis

Neuromuscular Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13862
  • 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

Results: 21 to 40 of 67

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.