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.
An inherited disease is a disease or disorder caused by an abnormality in our DNA which affects cells throughout our body. The result of the abnormality can range from almost indistinguishable through to major problems. More than 6000 disorders are caused by changes in a single gene and are known as monogenic or Mendelian disorders. Whilst individually each disease is rare, about 25% of people will carry at least one abnormal mutation for one of these diseases, resulting in disease in about 1 in every 200 births.
Carrier screening prior to pregnancy enables couples to learn about their reproductive risk and consider the most complete range of reproductive options, including whether or not to become pregnant, use advanced reproductive technologies such as preimplantation genetic diagnosis or use donor gametes. Screening also allows couples to consider prenatal diagnosis and pregnancy management options in the event of an affected fetus.
Our Inherited Disease Panel tests over 300 genes associated with more than 700 unique commonly inherited diseases including the most common forms of inherited deafness, blindness, heart disease, Parkinson’s disease, immunodeficiency, and various ataxias, anemias, and treatable metabolic syndromes.
Diseases are inherited in different ways but many are inherited in what is called an “autosomal recessive” pattern, meaning that people that have one abnormal mutation will not have symptoms of the disease, rather, being a “carrier” of that disease. If two carriers of an autosomal recessive disease have a child there is a 1/4 risk of the child being affected by that disease.
In cases where there is a known family history of a disease, carrier testing is an important tool for family planning and can guide reproductive options. In some cases prospective parents will discover that they do not carry the familial mutation and therefore have a reduced risk for having a child with the disease.
No. Genetic tests cannot detect all of the possible gene variants that could cause a disorder. This means that, even if you test negative, there is a chance that you may still be a carrier for a genetic condition. This is called residual risk.
If prospective parents are both shown to be carriers of a genetic disorder, couples may choose to use assisted reproductive technologies such as IVF to become pregnant. Paternity For Life recommends discussing all options with a genetic counsellor.
The Inherited Disease Panel tests the coding exons of over 300 genes associated with over 700 unique inherited diseases, including neuromuscular, cardiovascular, developmental, and metabolic diseases. The assay has been developed to match genes targeted by clinical molecular geneticists studying inherited diseases, including genes listed in the NIH Genetic Test Registry. The clinical utility of this panel lies within the scope of pre-marital screening as well as pre-IVF screening.
Genomics For Life aims to educate patients and their families about inherited diseases and their risk of inheritance, to empower them with the knowledge to take control of their health and treatment plans. As each patient’s case is unique, there is no “one size fits all” when it comes to testing. As inherited disease testing and the results from such tests can be complex, we also recommend you seek Genetic Counselling both prior to and after testing to help you understand your results and the implications they may have for both you and your family.
If you are ready to proceed with testing, a Testing Request Form can be downloaded from our website. We recommend you book an appointment with your doctor to discuss the testing and have your Request Form signed. You can then head to our website to submit your order and payment. Paternity For Life will then send a testing kit directly to your home address. All that is required for testing is a simple, painless mouth swab. Once we receive your sample we will begin testing. Results are typically available to your doctor within 21 working days.