The purpose of this test is to improve the possibilities of a couple having a healthy child. We are all at risk of having children with a genetic disease, even when there is no family history.
The analysis compares the genetic information of prospective parents, or that of the recipient with that of the donor, in order to prevent the transmission of autosomal recessive genetic diseases.
What is a recessive genetic disease?
Each one of us has information written in our genes about our physical characteristics and how our bodies work. We have two copies of each gene, one inherited from our father and the other from our mother. When one of these copies is defective but the other is healthy, the person does not have the disease, but they are a carrier of the defect though it does not affect them. If an altered copy is inherited from each parent, then the disease will be manifest.
This study examines the possibility of being the carrier of around 300 of the most common genetic diseases, including alpha thalassemia, beta thalassemia, cystic fibrosis, spinal muscular atrophy, sickle-cell anaemia, haemoglobinopathies (4: HbC, D, E & O) and 24 X-linked diseases including fragile X syndrome.