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Results: 21 to 40 of 44

Tests names and labsConditionsGenes, analytes, and microbesMethods

PDP2 - Pyruvate dehydrogenase phosphatase deficiency

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

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pyruvate Dehydrogenase Phosphatase Deficiency via the PDP1 Gene

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

PDP1 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

PDP1 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

PDP1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PDP1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Pyruvate dehydrogenase phosphatase deficiency (sequence analysis of PDP1 gene)

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

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

PDP1 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Mitochondrial Panel, Nuclear genes

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
145134
  • C Sequence analysis of the entire coding region

Pyruvate dehydrogenase complex deficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

Leigh Disease NGS Panel

Fulgent Genetics
United States
16375
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pyruvate Metabolism Disorders NGS Panel

Fulgent Genetics
United States
1814
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

PDP1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 44

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.