Clinical and research tests for 3751 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Arrhythmia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	36	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy and Arrhythmia Panel Mayo Clinic Laboratories Mayo Clinic United States	73	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	25	C Sequence analysis of the entire coding region T Targeted variant analysis
CHILDHOOD EPILEPSY Amplexa Genetics Amplexa Genetics A/S Denmark	1	125	S Mutation scanning of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	18	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	18	26	C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	18	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	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
Epilepsy panel_v.2.0 CGC Genetics Unilabs Portugal	1	759	C Sequence analysis of the entire coding region
Brugada syndrome (WES based NGS panel of 23 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	23	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.