Clinical and research tests for C1837845 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SCN5A mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	6	1	C Sequence analysis of the entire coding region
SCN5A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Sick sinus syndrome 1, 608567, Autosomal recessive; SSS1 (Familial sick sinus syndrome) (SCN5A 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
Sick sinus syndrome 1, 608567, Autosomal recessive; SSS1 (Familial sick sinus syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LongQTNext™ Ambry Genetics United States	33	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RhythmNext® Ambry Genetics United States	91	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCMNext® Ambry Genetics United States	100	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMNext® Ambry Genetics United States	138	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	189	92	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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

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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.