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Results: 61 to 70 of 70

Tests names and labsConditionsGenes, analytes, and microbesMethods

CARBAMOYL-PHOSPHATE SYNTHASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • 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

Invitae Urea Cycle Disorders Panel

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

CPS1

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

CPS1 Single Gene

Fulgent Genetics
United States
21
  • 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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amino Acid Analysis, Plasma

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
1917
  • A Analyte

Carbamoylphosphate Synthetase I Deficiency

Revvity Omics Revvity
United States
11
  • A Analyte

Results: 61 to 70 of 70

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.