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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mitochondrial Genome Sequencing and Depletion/Integrity Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4852
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1832
  • D Deletion/duplication analysis
  • C Sequence analysis 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

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGmito - Mitochondrial Genome Sequencing

PreventionGenetics, part of Exact Sciences
United States
1638
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

65 mtDNA Point Mutations plus Large Deletions Panel

GeneDx
United States
1765
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Mito Genome Sequencing & Deletion Testing

GeneDx
United States
2438
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
75240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy & Early Glaucoma NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4034
  • C Sequence analysis of the entire coding region

OFTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL

Laboratorio de Genetica Clinica SL
Spain
22
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Neuro-Ophthalmology Panel

Blueprint Genetics
Finland
338
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive External Opthalmoplegia

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
16
  • C Sequence analysis of the entire coding region

VARS2 Single Gene

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MGME1 Single Gene

Fulgent Genetics
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DNA2 Single Gene

Fulgent Genetics
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

mtDNA Depletion Syndrome NGS Panel

Fulgent Genetics
United States
8616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kearns Sayre syndrome

MGZ Medical Genetics Center
Germany
58
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.