Clinical and research tests for C3549845 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ABCB11 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	3	1	C Sequence analysis of the entire coding region
ATP8B1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC 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 Invitae United States	210	134	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis Panel PreventionGenetics United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis, intrahepatic, of pregnancy, 1, 147480, Autosomal dominant; ICP1 (Intrahepatic cholestasis of pregnancy) (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 Invitae 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
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
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
Intrahepatic Cholestasis NGS Panel Fulgent Genetics United States	15	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Intrahepatic Cholestasis , Panel Massive Sequencing (NGS) (ABCB4, ATP8B1, ABCB11, TJP2) Genes Reference Laboratory Genetics Spain	8	4	C Sequence analysis of the entire coding region
Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	14	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alagille Syndrome NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Liver Diseases Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	71	72	C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis Progressive Familial type 3 (PFIC), Intrahepatic: ABCB4 gene sequence analysis GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	2	1	C Sequence analysis of the entire coding region
ATP8B1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	3	1	D Deletion/duplication analysis 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.