Clinical and research tests for C0020479 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Aortopathy Comprehensive Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	17	24	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
Apolipoprotein E Genotyping, Blood Mayo Clinic Laboratories Mayo Clinic United States	2	1	T Targeted variant analysis
APOE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperlipoproteinemia, type III, 617347 (Hyperlipoproteinemia type 3) (APOE gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Coronary artery disease, severe, susceptibility to, 617347 (Hyperlipoproteinemia type 3) (APOE gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Pharmacogenetics Panel Mako Medical Laboratories United States	6	6	D Deletion/duplication analysis 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
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
Alzheimer's panel Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Familial hypercholesterolemia panel. 16-gene NGS panel. Genologica Medica Spain	20	16	C Sequence analysis of the entire coding region
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	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
Alzheimer's panel. NGS panel of 10 genes. Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
ApoE Genotyping Duzen Laboratories Duzen BBAGUAS Turkey	4	1	T Targeted variant analysis
APOE Institute for Human Genetics University Medical Center Freiburg Germany	6	1	C Sequence analysis of the entire coding region
Major Hypertriglyceridemia, Panel Massive Sequencing (NGS) 7 Genes Reference Laboratory Genetics Spain	6	7	C Sequence analysis of the entire coding region
Hyperlipoproteinemia, type 3 Asper Biogene Asper Biogene LLC Estonia	1	1	T Targeted variant analysis
HYPERLIPOPROTEINEMIA TYPE 3 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 21

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.