Clinical and research tests for 604559 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Progressive familial heart block, type IB, 604559, Autosomal dominant; PFHB1B (Familial progressive cardiac conduction defect) (TRPM4 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
RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	88	134	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
TRPM4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	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
CustomNext-Cardio® Ambry Genetics United States	236	167	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
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
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
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
Progressive Familial Heart Block via the TRPM4 Gene PreventionGenetics, part of Exact Sciences United States	1	1	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 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

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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.