Clinical and research tests for C5555857 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS RASopathy Panel Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	9	14	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
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
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
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
RASopathies Panel Health in Code Spain	1	18	C Sequence analysis of the entire coding region
Comprehensive Congenital Heart Disease Panel PreventionGenetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States	37	85	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
Noonan Syndrome and Rasopathies Panel Mendelics Brazil	2	25	C Sequence analysis of the entire coding region
Noonan and Comprehensive RASopathies Panel GeneDx United States	2	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan Spectrum Disorders Panel, Sequencing, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	10	15	C Sequence analysis of the entire coding region
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Phosphorus Diagnostics LLC United States	9	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Phosphorus Diagnostics LLC United States	10	95	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.