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Results: 1 to 20 of 55 (representing 30 labs)

Tests names and labsConditionsGenes and analytesMethods

Optic atrophy 1

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

OPA1 Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
299280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OPA1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

OPA1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy Sequencing Panel

PreventionGenetics
United States
1816
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel

PreventionGenetics
United States
2722
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OPA1. Complete sequencing

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

PEO Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
188
  • C Sequence analysis of the entire coding region

mtDNA Depletion/Integrity Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
2215
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy Type 1 , Deletions-Duplications (MLPA) OPA1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Optic Atrophy Type 1, Sequencing OPA1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Classic Mitochondrial Disease Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4224
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy Panel

Molecular Vision Laboratory
United States
62
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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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