U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

ABCB4 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCB4 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Cholestasis, progressive familial intrahepatic 3, 602347, Autosomal recessive; PFIC3 (Progressive familial intrahepatic cholestasis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cholestasis, progressive familial intrahepatic 3, 602347, Autosomal recessive; PFIC3 (Progressive familial intrahepatic cholestasis) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intrahepatic Cholestasis via the ABCB4 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

ABCB4 Deletion/Duplication Analysis

Baylor Genetics
United States
31
  • D Deletion/duplication analysis

ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intrahepatic Cholestasis NGS Panel

Fulgent Genetics
United States
155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC

Laboratorio de Genetica Clinica SL
Spain
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive Familial Intrahepatic Cholestasis Type 3 , Deletions-Duplications (MLPA) ABCB4 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

ABCB4 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Low GGT familial intrahepatic cholestasis, ATP8B1 sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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.