Clinical and research tests for C0020445 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypobetalipoproteinemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypercholesterolemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	10	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FHNext® Ambry Genetics United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
LDLR Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
LDLR Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hypercholesterolemia Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Hypercholesterolemia via the LDLR 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
Hyperlipidemia NGS Panel Fulgent Genetics United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Laron Syndrome (GHR Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACMG Secondary Findings (Medically Actionable Genes, Including Cardio and Cancer) NGS Panel Fulgent Genetics United States	177	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tangier Disease (ABCA1 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hypercholesterolemia NGS Panel Fulgent Genetics United States	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Pituitary Hormone Deficiency NGS Panel Fulgent Genetics United States	10	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hypercholesterolemia (FH) Panel Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAMILIAL HYPERCHOLESTEROLEMIA Laboratorio de Genetica Clinica SL Spain	3	5	D Deletion/duplication analysis S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Hereditary Renal Cancer Panel Baylor Genetics United States	41	13	D Deletion/duplication analysis E Sequence analysis of select exons
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	9	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Familial Hypercholesterolemia Panel Invitae United States	5	4	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.