Clinical and research tests for C0175704 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Congenital heart Disease Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	24	24	X Mutation scanning of select exons
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
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
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	44	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan Syndrome and Related Panel Mayo Clinic Laboratories Mayo Clinic United States	15	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASopathy NGS Panel UAB Medical Genomics Laboratory UAB Medicine United States	8	18	D Deletion/duplication analysis E Sequence analysis of select exons
Non-NF1 RASopathy NGS Panel UAB Medical Genomics Laboratory UAB Medicine United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASOPATHY-RELATED SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	9	19	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
LEOPARD SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	1	2	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy Exome Panel Northwest Clinical Genomics Laboratory University of Washington United States	32	75	C Sequence analysis of the entire coding region
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States	55	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lymphedema Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	15	7	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
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	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.