Clinical and research tests for C1859062 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Progressive familial heart block type I Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	9	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive familial heart block type I Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	9	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progressive familial heart block type I NGS panel HNL Genomics Connective Tissue Gene Tests United States	9	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Long QT syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Long QT syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	26	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Long QT syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Arrhythmia and Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	204	169	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac Arrhythmia Exome Panel Northwest Clinical Genomics Laboratory University of Washington United States	39	51	C Sequence analysis of the entire coding region
Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel Labcorp Genetics (formerly Invitae) LabCorp United States	134	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmogenic Cardiomyopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	70	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	115	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiac Arrhythmia Panel PreventionGenetics, part of Exact Sciences United States	80	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada Syndrome 1 via the SCN5A Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SCN5A MLPA Institute for Human Genetics University Medical Center Freiburg Germany	8	1	D Deletion/duplication analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Inherited Cadiac Disorders Panel Dhiti Omics Technologies Private Ltd India	60	33	C Sequence analysis of the entire coding region
SCN5A Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	6	1	D Deletion/duplication analysis
Brugada Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	25	14	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.