U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bile acid synthesis defect, congenital, 6, 617308, Autosomal recessive (ACOX2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Bile acid synthesis defect, congenital, 6, 617308, Autosomal recessive (ACOX2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bile acid synthesis defect, congenital: Full gene sequencing panel

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

Lipid Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
8071
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACOX2 Single Gene

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

Results: 1 to 12 of 12

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.