Clinical and research tests for C2750732 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Noonan syndrome core NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan syndrome core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan syndrome core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	14	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
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 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
Sudden Cardiac Arrest Panel PreventionGenetics, part of Exact Sciences United States	63	49	D Deletion/duplication analysis 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
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
NRAS Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
NRAS Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	3	1	T Targeted variant analysis
NRAS Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region
Noonan Syndrome via the NRAS 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
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Molecular profile of the tumor in melanoma. Panel NGS genes: BRAF, KIT, NRAS. Genologica Medica Spain	17	3	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 78

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.