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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Distal Myopathy Panel

PreventionGenetics, part of Exact Sciences
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ANO5

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • 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

Muscular dystrophies

Institute of Human Genetics Cologne University
Germany
179
  • C Sequence analysis of the entire coding region

Miyoshi muscular dystrophy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • 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

Osteogenesis Imperfecta and Decreased Bone Density NGS Panel

Fulgent Genetics
United States
11132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gnathodiaphyseal Dysplasia (ANO5 Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Asper Biogene Asper Biogene LLC
Estonia
8041
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy

Asper Biogene Asper Biogene LLC
Estonia
8739
  • C Sequence analysis of the entire coding region

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
7841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MIYOSHI MYOPATHY

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

Muscular Dystrophy Advanced Evaluation

Athena Diagnostics
United States
5333
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Advanced Sequencing Evaluation

Athena Diagnostics
United States
2717
  • C Sequence analysis of the entire coding region

ANO5

MVZ Dr. Eberhard & Partner Dortmund
Germany
31
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 49

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.