Definition

This panel does not screen for a single disease, but jointly tests for common variants in multiple genes associated with coronary artery disease and thrombosis susceptibility, selected from genes such as F5 Leiden, F2 prothrombin, MTHFR, APOE, LPA, PCSK9 and LDLR. The aim is to reveal the individual's polygenic/multifactorial risk profile for atherothrombosis and dyslipidemia; results alone are not diagnostic.

Gene/region examined

Factor II prothrombin (G20210A), Factor V (G1691A, H1299R), MTHFR (C677T, A1298C), Factor XIII (V34L), beta-Fibrinogen (-455 G-A), PAI-1 (4G/5G), HPA-1 (a/b), ACE (I/D), ApoB (R3500Q), ApoE (e2/e3/e4)

Method

Sequence analysis

Accepted sample types

EDTA blood

Inheritance

Inherited, germline variants are screened; the risk contribution may be autosomal dominant depending on the gene (e.g. LDLR/familial hypercholesterolemia) or polygenic/multifactorial.

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Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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