Table 1.
Different test options for cardiovascular risk management, indications for referral and clinical applications
| Test optionsa | Indication of referral | Application |
|---|---|---|
| FH test | FH diagnosis—High pre-treatment total (TC) and LDL-cholesterol levels in the presence of a strong family history of early-onset (<55 years) coronary heart disease and/or xanthomas (TC usually >7.5 mmol/l with normal triglyceride levels) | Population-specific—Diagnose FH or confirm clinical diagnosis of FH in the index case. A positive test enables family screening for pre-clinical diagnosis in at-risk family members |
| CVD multi-gene test | CVD risk reduction—Normal or abnormal lipid profile, typically moderate-high pre-treatment serum cholesterol levels, low HDL-cholesterol and/or high triglycerides. Elevated Lp(a), hs-CRP, homocysteine, glucose, ferritin and/or transferrin saturation levels. Medical conditions associated with increased CVD risk (e.g. obesity, hypertension, type II diabetes, non-alcoholic fatty liver disease) | Global application—Determine genetic contributors to disease development/severity and/or genetic basis of metabolic impairments and treatment response for risk management of CVD and related conditions affected by overlapping genes (e.g. metabolic syndrome, dementia, thrombophilia, depression and pregnancy complications) |
| FH & CVD tests | Diagnosis and risk management—Same as above with elevated pre-treatment serum cholesterol levels (TC >6 mmol/l). A strong family history of early-onset (<55 years) coronary heart disease and/or xanthomas | Same as above, with focus on distinguishing FH from other forms of dyslipidaemia. Alternatively, to identify additional risk factors in FH patients aimed at the prevention of a cumulative effect that may lead to the development or progression of CVD |
FH familial hypercholesterolaemia; CVD cardiovascular disease; Lp(a) Lipoprotein (a); hs-CRP high-sensitivity C-reactive protein.
aIn addition to the use of genetic markers abnormalities reported or detected in relevant biochemical parameters are highlighted and taken into account during interpretation of the genetic results.