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Results: 1 to 9 of 9

Tests names and labsConditionsGenes, analytes, and microbesMethods

Rhabdo/Metabolic Myopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

Nuclear-Encoded Mitochondrial Disorders Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

TMEM65 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 9 of 9

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.