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Results: 1 to 20 of 56

Tests names and labsConditionsGenes and analytesMethods

MELAS syndrome

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

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, MT-CO2 related

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

MELAS syndrome

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

MELAS syndrome

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

Cardiomyopathy, idiopathic dilated, mitochondrial

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

MELAS, MT-ND5-Related

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
10
  • T Targeted variant analysis

MELAS, MT-TL1-Related

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
10
  • T Targeted variant analysis

Mitochondrial Genome Sequence

Molecular Genetics Laboratory London Health Sciences Centre
Canada
2238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MT-ND5. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MT-TL1. Detection of the mutations m.3243A>G, m.3271T>C and m.3252A>G by sequencing

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

MT-ND5. Detection of the mutations m.12770A>G, m.13045A>C, m.13084A>T, m.13513G>A and m.13514A>G by sequencing

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

MTND5. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MTTL1. Detection of the mutations m.3243A>G, m.3271T>C and m.3252A>G by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MTND5. Detection of the mutations m.12770A>G, m.13045A>C, m.13084A>T, m.13513G>A and m.13514A>G by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Coenzyme Q10, Quantitative, Plasma

Emory Genetics Laboratory Emory University
United States
31
  • A Analyte

Coenzyme Q10, Quantitative, Leukocytes

Emory Genetics Laboratory Emory University
United States
31
  • A Analyte

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
12
  • T Targeted variant analysis

PCR MERRF, MELAS

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

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MELAS syndrome

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

Results: 1 to 20 of 56

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.