Clinical and research tests for C0085280 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Alagille syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Alagille syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Alagille syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Panel (Gastrointestinal) PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alagille syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Alagille syndrome Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alagille syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Next Generation Sequencing for Jaundice Associated Genes Variation Test National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	4	73	C Sequence analysis of the entire coding region
JAG1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
JAG1 Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
JAG1 Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis
JAG1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States	55	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq® Cardio: Familial Congenital Heart Disease Panel Integrated Genetics Westborough LabCorp United States	8	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alagille syndrome Laboratory of Human Genetics GENOMED Health Care Center Poland	1	2	C Sequence analysis of the entire coding region
Congenital Structural Heart Disease Panel Blueprint Genetics Finland	9	62	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.