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Inherited Cardiovascular Gene Panel
Heart disease… is not caused by lifestyle alone; genetics also play an important role. The Inherited Cardiovascular Gene Panel analyses your hereditary heart disease genes through Exome Sequencing to identify hidden risks of cardiovascular conditions in your DNA. This test helps you and your family prevent and manage unseen risks in a timely manner.
Conditions for Undergoing the Test
✅ Who should undergo the test
Recommended if ANY of the following apply:
1.Personal history of cardiac disease
- Cardiomyopathy (hypertrophic, dilated, restrictive)
- Primary arrhythmia syndromes (long QT, Brugada, catecholaminergic polymorphic VT, etc.)
- Unexplained sudden cardiac arrest or recurrent syncope of suspected genetic origin
- Familial Hypercholesterolemia suspicion – LDL-C ≥190 mg/dL in adults (≥160 mg/dL in children) plus family history of premature coronary disease or xanthomas
***AND one or more of the following:
• First-degree relative with premature coronary artery disease (men <55, women <65)
• First-degree relative with LDL-C above these cutoffs
• Presence of tendon xanthomas or corneal arcus before age 45
2.Strong family history of heart disease or sudden death
- One or more first-degree relatives with cardiomyopathy, arrhythmia, or sudden unexplained death (especially <50 years)
- Multiple relatives across generations with similar cardiac conditions
3.Unexplained structural or conduction abnormalities
- Early-onset AV block, unexplained cardiomegaly, or other congenital structural heart disease with suspected genetic cause.
4.Positive or suspicious family gene test
- Known pathogenic or likely pathogenic variant in a cardiac gene (e.g., MYH7, LMNA, SCN5A).
5.Pre-conception or prenatal planning in high-risk families
- Couple with a family history of inherited cardiomyopathy/arrhythmia seeking risk assessment.
❌ Who should not undergo the test
Testing is generally NOT recommended if:
1. No personal or family history suggesting genetic heart disease
- Example: isolated lifestyle-related hypertension or coronary artery disease at older age.
2. Active, advanced heart failure of clearly non-genetic cause
- Example: ischemic heart disease after long-standing atherosclerosis without suggestive family pattern.
3. Recent major blood transfusion or bone marrow transplantation
- May interfere with DNA analysis.
Note
- Pre- and post-test genetic counseling is essential
- Results must be interpreted with clinical correlation
- Negative test does not rule out all genetic causes
- Recommended frequency: once in a lifetime.
What is this screening?
This test provides a comprehensive analysis of gene groups associated with hereditary cardiovascular diseases, focusing on four major conditions:
- Familial hypercholesterolemia: Genetic high blood cholesterol
- Arrhythmia: Severe abnormal heart rhythms
- Cardiomyopathy: Abnormalities of the heart muscle
- Aortopathy: Disorders of the aorta
Service Procedure
- Please make an appointment at least two days in advance via Line @BNHhospital, by email at [email protected], or by calling 02-0220700 ext. 2847, 4445–7 during the hours of 13:00–15:00 only.
- Once your request has been received, the Health Check-up Department will contact you between 13:00–15:00 or by email to confirm your appointment.
- If you need to reschedule, kindly inform us at least two days in advance, again during 13:00–15:00 only.
- The screening service is provided at the Advanced Diagnostic Centre, 4th Floor, Zone A, BNH Hospital. On the day of your visit, our staff will first provide information about the test.
- A blood sample will then be collected without the need for fasting or dietary restrictions.
- The sample will be analysed in the laboratory, with results available in approximately 2 months.
- You will meet with a doctor to review the screening report, which will indicate any potential risk signals for various cancers and guide the planning of further diagnostic examinations
- In cases where a positive result is found, a specialist will provide additional consultation and recommend specific diagnostic procedures.
Frequently Asked Questions (FAQ) about Inherited Cardiovascular Gene Panel
A: It suits those with a family history of heart or vascular disease, arrhythmia, or sudden cardiac events at a young age, to assess inherited risk.
A: It uses a blood sample with no fasting required; prepare your family health history.
A: Results are available within a few weeks and indicate risk from genes related to heart and vascular disease, for appropriate prevention and monitoring.
A: Yes. Physicians and specialists are available to explain your results and next steps. You can book an appointment at BNH Hospital via the website or by phone.
