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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Urea Cycle Disease Panel

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

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest 100 PLUS panel

Integrated Genetics Westborough LabCorp
United States
115142
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Citrullinemia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
32
  • C Sequence analysis of the entire coding region

Urea Cycle Disorder

Asper Biogene Asper Biogene LLC
Estonia
1110
  • 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

Citrullinemia type 1/ Argininosuccinate synthetase 1 deficiency (ASS1)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Organic Acids, Comprehensive, Quantitative, Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
3857
  • A Analyte

Amino Acid Analysis, Plasma

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

Amino Acid Analysis, LC/MS, Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
810
  • A Analyte

Citrullinemia Type 1: ASS1 Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AMINO ACIDS, PLASMA

Genetics Laboratory Dayton Children's Hospital
United States
87
  • A Analyte

Results: 1 to 18 of 18

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.