Clinical and research tests for 605602 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HCFC1 Gene Mental retardation, X-linked type 3 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
MYOZ2 Gene Cardiomyopathy, familial hypertrophic type 16 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	100	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GenepoweRx_Cardiac Care GenepoweRx Uppaluri K&H Personalized Medicine Clinic India	63	102	D Deletion/duplication analysis H Detection of homozygosity S Mutation scanning of the entire coding region T Targeted variant analysis
MYOZ2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Cardiomyopathy, hypertrophic, 16, 613838, Autosomal dominant (MYOZ2 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
Targeted Cardiomyopathy panel Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS Italy	4	41	S Mutation scanning 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
Pan Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	112	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertrophic Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	67	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Cardiomyopathy Exome Panel Northwest Clinical Genomics Laboratory University of Washington United States	32	75	C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	42	C Sequence analysis of the entire coding region
Cardiomyopathy panel Clinical Genomics Laboratory Washington University in St. Louis United States	5	96	C Sequence analysis of the entire coding region
Cardiac Diseases Gene panel Clinical Genomics Laboratory Washington University in St. Louis United States	12	150	C Sequence analysis of the entire coding region
Invitae Hypertrophic Cardiomyopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	75	59	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.