Clinical and research tests for C1854063 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
Comprehensive Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	68	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dilated Cardiomyopathy/LVNC Panel Mayo Clinic Laboratories Mayo Clinic United States	52	63	D Deletion/duplication analysis C Sequence analysis 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
DSP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (DSP 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
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676, Autosomal recessive; DCWHK (Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome) (DSP gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
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
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
CMNext® Ambry Genetics United States	138	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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