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Results: 1 to 20 of 63

Tests names and labsConditionsGenes and analytesMethods

Tempus xO assay

Tempus Labs, Inc.
United States
11714
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Gallbladder disease 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis progressive familial intrahepatic 3

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis familial intrahepatic of pregnancy

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCB4 mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Connective Tissue Gene Tests
United States
14
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Deletion / Duplication Panel

Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Comprehensive Panel

Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome Sequencing Panel

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

ABCB4. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

Cholestasis Sequencing Panel

PreventionGenetics
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCB4. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

ATP8B1, ABCB11, ABCB4. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
33
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

ABCB4 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
31
  • T Targeted variant analysis

ABCB4 Sequence Analysis

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

ABCB4 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
31
  • D Deletion/duplication analysis

ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis

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

Results: 1 to 20 of 63

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.

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