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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Urea Cycle Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1311
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

PreventionGenetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Urea Cycle Disorders Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia, Urea Cycle & Transporter Defects Panel

GeneDx
United States
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ornithine Transcarbamylase (OTC) Deficiency Test

Invitae
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Low Citrulline Panel

Invitae
United States
74
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia and Urea Cycle Disorder Panel

Blueprint Genetics
Finland
248
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Citrulline (Citrullinemia) Panel

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

Invitae Urea Cycle Disorders Panel

Invitae
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Arginine (Arginase Deficiency) Panel

Invitae
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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.