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Results: 61 to 73 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pyruvate Carboxylase Deficiency , Sequencing PC Gene

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

GeneAware Complete Panel Version 2 (Male)

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

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Elevated Citrulline (Citrullinemia) Panel

Invitae
United States
95
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pyruvate carboxylase deficiency

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

PC 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
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TCA Cycle NGS Panel

Fulgent Genetics
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lactic Acidosis-Pyruvate NGS Panel

Fulgent Genetics
United States
9569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukoencephalopathy NGS Panel

Fulgent Genetics
United States
15569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metaboseq Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
5755
  • C Sequence analysis of the entire coding region

Results: 61 to 73 of 73

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.