Cardiac Disease Risk Test
What is a cardiac genetic test?
Most heart disease builds up over time through blood pressure, cholesterol, smoking and other lifestyle factors. Some people also carry a single inherited gene variant that sharply raises their risk, often from a young age and often with no warning signs. Familial hypercholesterolaemia affects about 1 in 300 people, and most of them don't know they have it. Hypertrophic cardiomyopathy affects at least 1 in 500. When an inherited heart condition is found early, treatment can start early: cholesterol-lowering medication, regular heart imaging, rhythm monitoring, or avoiding certain medicines. Your relatives can then be tested as well.
This test looks for inherited risk. It can't tell you whether you have heart disease now, and it doesn't replace a heart check, blood pressure reading or cholesterol test.
What your results look like
You'll receive a doctor-reviewed report with one of three findings, plus a consult with a genetic counsellor to talk it through.
No abnormality detected: This is the most common result. None of the 88 genes tested showed a disease-causing variant. Your usual heart health checks still apply: blood pressure, cholesterol and diabetes screening, plus any checks your family history calls for.
Carrier status: You carry one copy of a variant for a recessive or X-linked condition. It usually doesn't affect your own heart health, but it can matter for your children, so your partner may be advised to get tested.
Increased risk: Your report names the gene and the variant, explains the condition and how it's passed down, and sets out an action plan. That plan can cover heart imaging (echocardiogram or cardiac MRI), ECG or rhythm monitoring, cholesterol targets and treatment, medicines to avoid, when to see a cardiologist, and which relatives could benefit from testing.
Variants of uncertain significance aren't reported. A gene variant is a risk marker, not a diagnosis.
What's included
Cardiomyopathy is a disease of the heart muscle that affects how well the heart pumps. Hypertrophic cardiomyopathy affects about 1 in 500 people and can go unnoticed for years. If a variant is found, your report may recommend heart imaging, an ECG and regular reviews, plus treatment options to discuss with your doctor.
Inherited arrhythmias affect the heart's electrical system, and the heart can look normal on a scan. Long QT syndrome affects about 1 in 2,000 people. If a variant is found, your report may recommend an ECG and rhythm monitoring, a list of medicines to discuss with your doctor, and treatment options.
Familial hypercholesterolaemia (FH) causes high LDL cholesterol from birth. It affects about 1 in 300 people, and many don't know they have it. Early treatment can substantially lower the risk of heart disease. If a variant is found, your report may recommend a lipid profile, cholesterol targets and treatment options to discuss with your doctor. First-degree relatives can be tested.
These conditions affect the strength of the aorta (the body's main artery) and other connective tissue. Marfan syndrome affects about 1 in 5,000 people. If a variant is found, your report may recommend aortic imaging, blood pressure monitoring, and advice on exercise and pregnancy.
These conditions affect the blood vessels. Pulmonary arterial hypertension is high blood pressure in the arteries of the lungs. Hereditary haemorrhagic telangiectasia (HHT) causes fragile blood vessels that can bleed. If a variant is found, your report may recommend heart and lung imaging. SMAD4 carriers may also be advised to have bowel screening.
These genes control how your blood clots. Some variants raise the risk of clots such as a DVT; others make bleeding more likely. About 1 in 20 people of European ancestry carry factor V Leiden. If a variant is found, the usual plan is guidance on contraception, HRT, surgery, pregnancy and long flights. For bleeding or low-platelet variants, it also includes blood tests with a haematologist.
A one-on-one telehealth consult with an accredited genetic counsellor is included in the price, so you're never left to interpret a result on your own. If an increased risk is found, that appointment is booked for you, and Eugene's counsellors may also offer a pre-test session where your history calls for one.
Test instructions
Your saliva kit and instructions are posted to you.
Mail your sample(s) back to the lab using the prepaid envelope and packaging provided.
Avoid food, drink, smoking and gum for 30 minutes, fill the tube to the line.
Results for this test are typically available in 4 weeks.
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Common Questions
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