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Results: 1 to 20 of 20 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Cholestasis, intrahepatic, of pregnancy, 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, intrahepatic, of pregnancy, 1 (ICP1) - Deletion/Duplication

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

ABCB11 mutation analysis

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

ATP8B1 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
31
  • 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

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

Cholestasis Del/Dup Panel

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

Cholestasis Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive Familial Intrahepatic Cholestasis NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
146
  • C Sequence analysis of the entire coding region

Alagille Syndrome NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
73
  • C Sequence analysis of the entire coding region

Cholestasis Progressive Familial type 3 (PFIC), Intrahepatic: ABCB4 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
21
  • C Sequence analysis of the entire coding region

ATP8B1 Gene Sequencing

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

Progressive familial intrahepatic cholestasis (NGS panel for 4 genes)

CGC Genetics
Portugal
54
  • C Sequence analysis of the entire coding region

Single gene testing ATP8B1

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Cholestasis Progressive Familial Intrahepatic: ABCB4 gene deletion-duplication analysis(MLPA)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
21
  • D Deletion/duplication analysis

ATP8B1

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

Neonatal and Adult Cholestasis: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9957
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intrahepatic cholestasis panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
83
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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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