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Results: 1 to 20 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

ATP8B1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • C Sequence analysis of the entire coding region

ATP8B1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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 1, 211600, Autosomal recessive; PFIC1 (Progressive familial intrahepatic cholestasis) (ATP8B1 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 1, 211600, Autosomal recessive; PFIC1 (Progressive familial intrahepatic cholestasis) (ATP8B1 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 Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PFIC - Cholestasis

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
31
  • C Sequence analysis of the entire coding region

ATP8B1 mutation analysis

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

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • 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

PFIC1 Genetic Analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10473
  • C Sequence analysis of the entire coding region

Cholestasis, progressive familial intrahepatic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Hereditary hepatic diseases (55 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
3655
  • C Sequence analysis of the entire coding region

Familial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes

Reference Laboratory Genetics
Spain
84
  • C Sequence analysis of the entire coding region

Progressive Familial Intrahepatic Cholestasis Type 1, Massive Sequencing (NGS) ATP8B1 Gene

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

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC

Laboratorio de Genetica Clinica SL
Spain
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

Blueprint Genetics
Finland
846
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gluconeogenesis Disorders

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
54
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.