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Results: 1 to 20 of 48 (representing 27 labs)

Tests names and labsConditionsGenes and analytesMethods

Cholestasis, progressive familial intrahepatic, 2 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis, benign recurrent intrahepatic, 2 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis, progressive familial intrahepatic, 2 (PFIC2) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Cholestasis, progressive familial intrahepatic 2

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

ABCB11 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
31
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • 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 ABCB11 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Sequencing Panel

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

ABCB11. 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 Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

ABCB11 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • T Targeted variant analysis

ABCB11 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCB11 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • D Deletion/duplication analysis

ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCB11 Sequencing

Hehr Laboratory Center for Human Genetics - University of Regensburg
Germany
21
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Benign Recurrent Intrahepatic Cholestasis Type 2, Sequencing ABCB11 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Cholestasis Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis

Results: 1 to 20 of 48

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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