At Mount Elizabeth Novena Centre for Genomic Health, we offer a comprehensive range of medical-grade genetic testing services to help you and your family uncover and understand any genetic mutations you may have with the goal of personalising medical care for each person.
Our clinical genetic tests include:
Familial hypercholesterolaemia (FH) is an inherited condition caused by a genetic mutation leading to high blood cholesterol levels, specifically in low-density lipoprotein (LDL) cholesterol. FH is one of the most common inherited conditions, affecting about 1 in 250 people. It brings with it a heightened risk of early cardiovascular disease.
Your risk for FH may be higher if:
Clinical FH genetic testing can help:
Hypertrophic cardiomyopathy is among the most common inherited heart diseases, affecting about 1 in 500 to 1 in 1000 people. This disease is characterised by an abnormal thickening in the wall of the left ventricle (called left ventricular hypertrophy), the heart's main pumping chamber.
As a result, the heart muscle may become stiff, making it difficult to relax. This will cause the heart to require higher pressure than normal to fill, leading to shortness of breath, chest pain and dizziness.
It is important to ask close and extended family members if there are any cases of heart problems, sudden death, unexplained deaths and/or major health problems in the family.
Clinical hypertrophic cardiomyopathy genetic testing can help to:
Marfan syndrome (MS) is a connective tissue disorder caused by FBN1 gene mutations on chromosome 15 – a chromosome that produces a vital connective tissue protein.
This disease doesn't impact intelligence but can affect the heart, blood vessels, bones, joints, eyes, and sometimes the lungs and skin. A pregnancy with MS can pose risks, especially if the aortic root exceeds 4cm.
MS is more likely if one or more of the following features can be confirmed in your family:
Clinical MS genetic testing can help to:
HBOC is an inherited genetic condition, and there are 2 primary genes linked with most families who have HBOC – BRCA1 and BRCA2. A mutation in either of these genes increases a woman's lifetime risk of developing breast and ovarian cancers.
Men with these gene mutations also have an increased risk of breast and prostate cancer. These genetic mutations can also cause a slight increase in the risk of other cancers, including pancreatic cancer and melanoma.
About 5 – 10% of breast cancers and 15 – 20% of ovarian cancers can be attributed to HBOC.
The chance that a family has HBOC increases in any of these situations:
Clinical HBOC genetic testing can help:
Lynch syndrome is the most common form of hereditary colorectal cancer in Singapore. Those with Lynch syndrome also have an increased risk of developing other cancers such as endometrial (uterine) cancer, stomach cancer, breast cancer, and pancreatic cancer.
It is estimated that 1 in 300 people may be carriers of a gene mutation associated with Lynch syndrome, placing it among the most common hereditary cancer syndromes.
The history of cancer in your close relatives can provide hints about your family’s chance of having Lynch syndrome. Close relatives include children, siblings, parents, aunts, uncles, grandchildren and grandparents on one side of the family.
Lynch syndrome is more likely if one or more of the following features can be confirmed in your family:
Clinical Lynch syndrome genetic testing can help to: