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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

DYSF - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (DYSF gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (DYSF gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • 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 Limb-Girdle Muscular Dystrophy Panel

Invitae
United States
9137
  • 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

Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Neuromuscular Disorders Panel

Dhiti Omics Technologies Private Ltd
India
167
  • C Sequence analysis of the entire coding region

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8952
  • C Sequence analysis of the entire coding region

Girdle muscular dystrophy. NGS panel of 39 genes.

Genologica Medica
Spain
8439
  • 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

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.