Clinical and research tests for C1275081 - 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
PGmax™ - Comprehensive Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiomyopathy Exome Panel Northwest Clinical Genomics Laboratory University Of Washington United States	32	75	C Sequence analysis of the entire coding region
BRAF-Related Disorders via the BRAF Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
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
GeneSeq: Cardio - Noonan Syndrome/RASopathies Panel Integrated Genetics Westborough LabCorp United States	6	20	C Sequence analysis of the entire coding region
Noonan Syndrome, Fetal Analysis Integrated Genetics Westborough LabCorp United States	5	19	C Sequence analysis of the entire coding region
Cardiofaciocutaneous syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
KRAS Mutations Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
BRAF Gene V600E Mutation Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
Prenatal Noonan Spectrum Disorders Panel GeneDx United States	3	11	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Schwannomatosis NGS Panel Fulgent Genetics United States	85	7	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.