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Results: 1 to 20 of 43

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

Cholestasis, progressive familial intrahepatic 3, 602347, Autosomal recessive; PFIC3 (Progressive familial intrahepatic cholestasis) (ABCB4 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

Cholestasis, progressive familial intrahepatic 3, 602347, Autosomal recessive; PFIC3 (Progressive familial intrahepatic cholestasis) (ABCB4 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

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 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

ABCB4 Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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.