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Results: 1 to 20 of 39 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

Spinocerebellar ataxia infantile-onset

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

C10orf2 (Twinkle) Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
21
  • C Sequence analysis of the entire coding region

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7360
  • 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

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

C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

C10orf2 (TWINKLE) Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

C10orf2 (TWINKLE) Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2 -related disorders via the TWNK/C10orf2 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

Neuromuscular Comprehensive Panel

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

Spastic paraplegia panel, autosomal dominant

LifeLabs Genetics
Canada
11
  • 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

Mitochondrial DNA Depletion Syndrome Panel

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

Single gene testing TWNK

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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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