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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

MPV17 common South African mutation

Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services
South Africa
11
  • T Targeted variant analysis

MVL Vision Panel

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

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Panel - Expanded

PreventionGenetics
United States
125110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics
United States
290251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156, Autosomal recessive; MTDPS15 (TFAM gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156, Autosomal recessive; MTDPS15 (TFAM gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • 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

Mitochondrial Panel, Nuclear genes

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
145134
  • C Sequence analysis of the entire coding region

Mitochondrial DNA depletion syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1815
  • C Sequence analysis of the entire coding region

Comprehensive mtDNA Depletion Syndromes NGS Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2217
  • C Sequence analysis of the entire coding region

Mitochondrial Depletion NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3223
  • C Sequence analysis of the entire coding region

Mitochondrial DNA Depletion Syndrome Panel

Blueprint Genetics
Finland
1025
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37302
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases (mtDNA and 217 nuclear genes)

Asper Biogene Asper Biogene LLC
Estonia
89210
  • C Sequence analysis of the entire coding region

TWNK/C10orf2-Related Mitochondrial Disorder

MGZ Medical Genetics Center
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

mitochondrial DNA Depletion

MGZ Medical Genetics Center
Germany
31
  • D Deletion/duplication analysis

Results: 1 to 18 of 18

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.