Clinical and research tests for C4551990 - Genetic Testing Registry (GTR) - NCBI

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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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
APOB - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
APOB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae eMERGE Panel Invitae United States	59	16	D Deletion/duplication analysis
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypobetalipoproteinemia, 615558, Autosomal recessive (APOB gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FHNext® Ambry Genetics United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene PreventionGenetics United States	2	1	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
Familial hypercholesterolemia panel. 16-gene NGS panel. Genologica Medica Spain	20	16	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
Hyperlipidemia panel Genologica Medica Spain	5	4	C Sequence analysis of the entire coding region
Preventive 59 Genologica Medica Spain	172	59	C Sequence analysis of the entire coding region
FAMILIAL HYPERCHOLESTEROLEMIA GENETIC PANEL Duzen Laboratories Duzen BBAGUAS Turkey	4	4	C Sequence analysis of the entire coding region
APOB Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Hyperlipidemia NGS Panel Fulgent Genetics United States	19	11	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

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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.