Clinical and research tests for C2609268 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ABCB4 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ABCB4 - 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
Gallbladder disease 1, 600803, Autosomal recessive, Autosomal dominant; GBD1 (Low phospholipid associated cholelithiasis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Gallbladder disease 1, 600803, Autosomal recessive, Autosomal dominant; GBD1 (Low phospholipid associated cholelithiasis) (ABCB4 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 Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis 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
ABCB4 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
ABCB4 Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
ABCB4 Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis
ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ABCB11 Sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	C Sequence analysis of the entire coding region
ABCB4 Sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	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
Gallbladder disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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
Single gene testing ABCB4 CeGaT GmbH Germany	3	1	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.