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Results: 1 to 20 of 74

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Progressive external ophthalmoplegia with mitochondrial deletions, autosomal recessive

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

Progressive external ophthalmoplegia with mitochondrial deletions autosomal recessive

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EpiRapid

Ambry Genetics
United States
3916
  • 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

MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
209
  • C Sequence analysis of the entire coding region

POLG. Detection of the mutations p.Thr251Ile, p.Ala467Thr, p. Pro587Leu, p.Trp748Ser and p.Gly848Ser by sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

POLG. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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

POLG Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POLG Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

POLG Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

POLG Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

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

POLG-Related Mitochondrial Disorders via the POLG Gene

PreventionGenetics
United States
41
  • 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

Results: 1 to 20 of 74

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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