Clinical and research tests for C4551898 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP8B1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	C Sequence analysis of the entire coding region
ATP8B1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	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	130	69	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	1	1	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	1	1	C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PFIC - Cholestasis Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	1	C Sequence analysis of the entire coding region
ATP8B1 mutation analysis Hehr Laboratory Center for Human Genetics Regensburg Germany	2	1	L Linkage analysis C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
PFIC1 Genetic Analysis Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
ATP8B1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Cholestasis, progressive familial intrahepatic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC Laboratorio de Genetica Clinica SL Spain	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel Blueprint Genetics Finland	8	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	13	5	C Sequence analysis of the entire coding region

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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.