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Results: 1 to 20 of 43

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Cholestasis, progressive familial intrahepatic, 1 - 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, 1 (PFIC1) - Deletion/Duplication

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

ATP8B1 mutation analysis

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

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome NextGen Sequencing (NGS) 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 ATP8B1 Gene

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

Cholestasis NextGen Sequencing (NGS) Panel

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

ATP8B1. 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

ATP8B1 Sequence Analysis (Prenatal Diagnosis)

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

ATP8B1 Sequence Analysis

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

ATP8B1 Deletion/Duplication Analysis

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

ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATP8B1 mutation analysis

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

Jaundice Panel by next-generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
65
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Panel by next-generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1918
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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.