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Results: 1 to 20 of 52 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia with mitochondrial deletions type 3

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

SLC25A4 (ANT1) Sequence Analysis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • 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

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

C10orf2. Complete sequencing

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

PEO Panel (MitomeNGS)

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

mtDNA Depletion/Integrity Panel (MitomeNGS)

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

MitoMet®Plus aCGH Analysis

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

C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis)

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

C10orf2 (TWINKLE) Sequence Analysis

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

C10orf2 (TWINKLE) Deletion/Duplication Analysis

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

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

Baylor Miraca Genetics Laboratories Baylor College of Medicine
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

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia (NGS panel of 12 genes)

CGC Genetics
Portugal
1212
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia (NGS panel of 12 genes)

CGC Genetics
Portugal
1212
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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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