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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cholestasis Panel

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

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
7112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

CYP7A1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Cholestasis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10473
  • C Sequence analysis of the entire coding region

FAMILIAL HYPERCHOLESTEROLEMIA

Laboratorio de Genetica Clinica SL
Spain
35
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CYP7A1 Single Gene

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

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.