Clinical and research tests for C0152013 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PREVENTEST GeneID Lab - Advanced Molecular Diagnostics United States	60	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ALK ROS1 Fusion Test Circulogene Theranostics United States	5	2	R RNA analysis
Detection by FISH of HER2 CGC Genetics Unilabs Portugal	3	1	F Fluorescence in situ hybridization (FISH)
BRAF amplifications Duzen Laboratories Duzen BBAGUAS Turkey	3	1	I FISH-interphase
NTRK fussion mutations Duzen Laboratories Duzen BBAGUAS Turkey	1	3	I FISH-interphase
BRAF Gene V600E Mutation Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
Lung NGS Fusion Panel (Complete or Limited) NeoGenomics Laboratories NeoGenomics Laboratories, Inc. United States	2	8	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
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erdheim-Chester Disease (BRAF Single Gene Test) Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coenzyme Q10 Deficiency NGS Panel Fulgent Genetics United States	33	15	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
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy NGS Panel Fulgent Genetics United States	375	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardio-Facio-Cutaneous Syndrome NGS Panel Fulgent Genetics United States	20	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EGFR Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BRAF Single Gene Fulgent Genetics United States	7	1	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.