Clinical and research tests for 600435 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CRYAA - 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
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
Dilated Cardiomyopathy panel Clinical Genomics Laboratory Washington University in St. Louis United States	1	68	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
Dilated cardiomyopathy (WES based NGS panel of 81 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	81	C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
HYPERTROPHIC CARDIOMYOPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	197	E Sequence analysis of select exons
SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	394	E Sequence analysis of select exons
HEREDITARY ARRHYTHMIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	160	E Sequence analysis of select exons
DILATED CARDIOMYOPATHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	141	E Sequence analysis of select exons
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CTF1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	125	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy NGS Panel Fulgent Genetics United States	375	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dilated Cardiomyopathy NGS Panel Fulgent Genetics United States	182	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	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.