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.
Preconception carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with an inherited disease. In many cases parents don’t have any idea that they are carriers and have no family history due to the rarity of some diseases in the general population. Our Inherited Disease Panel tests the coding exons of over 300 genes associated with over 700 unique inherited diseases, including inherited deafness, blindness, heart disease, Parkinson’s disease, immunodeficiency, and various ataxias, anemias and metabolic syndromes.
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.