Clinical and research tests for C1879286 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Arrythmogenic Cardiomyopathy Panel Health in Code Spain	53	17	C Sequence analysis of the entire coding region
SCN5A mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC 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
Heart block, nonprogressive, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (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
Heart block, nonprogressive, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Heart block, progressive, type IA, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (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
Heart block, progressive, type IA, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae 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

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