Clinical Tests

The Pharmacogenomics test is your one test for life. The test will cover your metabolic response to medications at all stages in life, and can be referred back to at any time regardless of your age or health status. Pharmacogenomics is the analysis of how genes affect a person’s response to drugs. As everyone has a unique genetic makeup, this can affect how you will respond or react to certain medications. Through pharmacogenomics testing, individualised medicine treatment plans can be developed based on each patient’s genetic makeup, to determine optimal drugs and dosages, and limit harmful side effects.

Cystic fibrosis (CF) is an inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene helps to regulate the flow of salt and water into and out of cells in our body. It plays an important role in the production of sputum (mucus), sweat and other digestive fluids. If have a history of CF in your family, a partner with CF (or a family history of it), or a child with the condition, you may choose to get carrier testing. A simple mouth swab can determine if you are a carrier of the faulty gene that causes cystic fibrosis. Carrier testing is often done for people who are thinking of starting a family and have a relative with cystic fibrosis.

Paternity For Life offers a comprehensive Extended Carrier Screening test, providing prospective parents with the information they require when planning their pregnancy, it has also been recommended that extended carrier screening is offered to all women when planning a pregnancy, regardless of their geographic origin or family history. Extended Carrier Screening has been shown to detect carriers who would not have been considered candidates for traditional risk-based screening. With a simple mouth swab collection, we are able to test for over 419 genes associated with inherited diseases, including Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome.

Hereditary breast and ovarian cancer (HBOC) resulting from mutations in the BRCA1 and BRCA2 genes occurs in all ethnic and racial populations. BRCA mutations increase the risk of developing breast and ovarian cancer, and patients with mutations tend to develop breast cancer at a younger age. Around 1 in 400 people are believed to have BRCA1 or BRCA2 mutations and 5 – 10% of breast cancers result from a mutation in the BRCA1 and BRCA2 genes. Testing can identify BRCA1 or BRCA2 variants and determine whether they are of germline origin. If germline mutations are detected family members can be tested to see if they have inherited the increased risk for Breast cancer, enabling earlier detection and prevention in family members.