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Results: 1 to 20 of 62 (representing 24 labs)

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

Maple sirup urine disease type III

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

DLD Sequence Analysis

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

Organic Aciduria Sequencing Panel

PreventionGenetics
United States
2429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dihydrolipoamide Dehydrogenase (DLD)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • T Targeted variant analysis

DLD 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

DLD Deletion/Duplication Analysis

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

DLD 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

Ashkenazi Jewish diseases

Asper Biogene Asper Biogene LLC
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LEIGH SYNDROME: NGS PANEL-2

Laboratorio de Genetica Clinica SL
Spain
1943
  • C Sequence analysis of the entire coding region

LEIGH SYNDROME: NGS PANEL-1

Laboratorio de Genetica Clinica SL
Spain
915
  • C Sequence analysis of the entire coding region

LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
614
  • C Sequence analysis of the entire coding region

PYRUVATE DEHYDROGENASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Dihydrolipoamide Dehydrogenase Deficiency , Sequencing DLD Gene

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

GeneAware Ashkenazi Jewish Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
4437
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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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