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Results: 1 to 20 of 42 (representing 19 labs)

Tests names and labsConditionsGenes and analytesMethods

PDHA2 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

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • -- Sequence analysis of the entire coding region

PDHA1 Sequence Analysis (Prenatal Diagnosis)

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

PDHA1 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

PDHA1 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

PDHA1 Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Amino Acid Analysis - Plasma

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
2526
  • A Analyte

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

Pyruvate Dehydrogenase Complex - PDHA1 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Pyruvate Dehydrogenase Deficiency Panel

Invitae
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel

Invitae
United States
63
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Dihydrolipoamide Dehydrogenase Deficiency Test

Invitae
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
156125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
302301
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pyruvate Dehydrogenase Complex Deficiency Next-Generation Sequencing Panel

Center for Human Genetics Laboratory University Hospitals - University Hospitals Laboratory Service Foundation
United States
11
  • C Sequence analysis of the entire coding region

Pyruvate Dehydrogenase Deficiency

Medizinisch Genetisches Zentrum München MGZ München
Germany
36
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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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