Clinical and research tests for C1843181 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
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
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	223	198	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SHOC2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
SHOC2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
SHOC2 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
Noonan-Like Syndrome with Loose Anagen Hair via the SHOC2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan syndrome-like disorder with loose anagen hair: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	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
Noonan Spectrum Disorders Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	24	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PreSeek™ Non-invasive Prenatal Gene Sequencing Screen Baylor Genetics United States	48	30	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.