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Results: 1 to 20 of 36 (representing 28 labs)

Tests names and labsConditionsGenes and analytesMethods

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

MERRF syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, mitochondrial

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

MERRF

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • T Targeted variant analysis

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

MT-TK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

MTTK. Detection of the mutations m.8344A>G, m.8356T>C, m.8361G>A and m.8363G>A by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

PCR for MERRF, MELAS

Molecular Pathology Laboratory Ohio State University
United States
11
  • T Targeted variant analysis

MERRF SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • X Mutation scanning of select exons

Myoclonic epilepsy with ragged-red fibers(MERRF), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), LEIGH, Neuropathy,Ataxia and retinis pigmentosa(NARP) mutations study

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
43
  • T Targeted variant analysis

MERRF syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Myoclonic epilepsy associated with ragged-red fibers (MERRF, A8344G mutation)

CGC Genetics
Portugal
11
  • T Targeted variant analysis

MERRF/MELAS overlap syndrome (sequence analysis of MTTS2 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

MERRF/MELAS overlap syndrome (sequence analysis of MTTS1 gene)

CGC Genetics
Portugal
21
  • C Sequence analysis of the entire coding region

mtDNA encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
1137
  • C Sequence analysis of the entire coding region

MERRF, MT-TK sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • C Sequence analysis of the entire coding region

MERRF Test

Genetics Laboratory - Department of Pathology Rush University Medical Center
United States
11
  • X Mutation scanning of select exons

MERRF mtDNA Evaluation

Athena Diagnostics Inc
United States
11
  • T Targeted variant analysis

Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP)

Athena Diagnostics Inc
United States
64
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 36

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.

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