Clinical and research tests for C4478716 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pan Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	113	106	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	66	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Heart Disease Panel Invitae United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardiomyopathy Comprehensive Panel Invitae United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Invitae United States	239	100	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
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Noonan syndrome panel. NGS panel of 22 genes. Genologica Medica Spain	48	22	C Sequence analysis of the entire coding region
SHOC2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	82	60	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	170	71	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Hypertrophic CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	85	35	C Sequence analysis of the entire coding region
Cardiomyopathy Panel, Dilated CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	134	48	C Sequence analysis of the entire coding region
Noonan Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	36	13	C Sequence analysis of the entire coding region
Noonan syndrome Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	18	18	C Sequence analysis of the entire coding region
SHOC2 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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

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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.