Clinical and research tests for 84699 - Genetic Testing Registry (GTR)

Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Familial Hypercholesterolemia (15 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	15	15	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
Hypertriglyceridemia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	16	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Lipidemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia panel Genetic Services Laboratory University of Chicago United States	17	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Chylomicronemia Panel PreventionGenetics, part of Exact Sciences United States	8	7	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	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyslipidemia (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
Dislipidemias Panel CGC Genetics Unilabs Portugal	1	16	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Hyperlipidemia panel. 18-gene NGS panel. Genologica Medica Spain	25	18	C Sequence analysis of the entire coding region
Liver Disease panel Genetic Services Laboratory University of Chicago United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CREB3L3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Familial Hypertriglyceridemia NGS Panel Fulgent Genetics United States	20	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel Blueprint Genetics Finland	8	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperlipidemia Panel Blueprint Genetics Finland	1	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CREB3L3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.

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Results: 1 to 18 of 18

Results: 1 to 18 of 18