Clinical and research tests for 607667 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NeXT Dx Personalis, Inc. United States	1	413	I Microsatellite instability testing (MSI) R RNA analysis C Sequence analysis of the entire coding region
CTNNA3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arrhythmogenic right ventricular dysplasia, familial, 13, 615616, Autosomal dominant; ARVD13 (Familial isolated arrhythmogenic right ventricular dysplasia) (CTNNA3 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
Pan Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	112	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiac Arrhythmia Panel PreventionGenetics, part of Exact Sciences United States	79	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)/Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	19	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneSeq Cardio Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	55	177	T Targeted variant analysis
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
Arrhythmogenic right ventricular dysplasia (WES based NGS panel of 15 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	15	C Sequence analysis of the entire coding region
Arrythmia Panel CGC Genetics Unilabs Portugal	1	79	C Sequence analysis of the entire coding region
Arrhythmogenic right ventricular dysplasia 13 (ARVD, sequence analysis of CTNNA3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Arrhythmogenic right ventricular dysplasia 13 (ARVD, deletion/duplication analysis of CTNNA3 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	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 Arrhythmia Panel Integrated Genetics Westborough LabCorp United States	9	51	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.