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Results: 1 to 20 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

ATP5F1E Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Nuclear Mitochondrial Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Combined mtDNA+Nuclear Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
12221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MVL Vision Panel

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

ATP5F1E - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

3-Methylglutaconic Aciduria Panel

Mayo Clinic Laboratories Mayo Clinic
United States
117
  • D Deletion/duplication analysis
  • 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

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; MC5DN3 (Isolated ATP synthase deficiency) (ATP5E gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; MC5DN3 (Isolated ATP synthase deficiency) (ATP5E gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

WES mitochondrial disorders

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

Mitochondrial Complex V Deficiency Panel (Nuclear Genes)

PreventionGenetics, part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Complex V Deficiency via the ATP5F1E (ATP5E) Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ATP5E Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ATP5E Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ATP5E Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

ATP5E Comprehensive - Sequence & Deletion/Duplication Analysis

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

Results: 1 to 20 of 68

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.