We all carry genetic alterations in the DNA, which is the molecule that contains the instructions that the cells and our body need to work properly. We inherit half of our DNA from each of our parents and our children will have half our genetic material.
The majority of these changes do not cause disorders. However some alterations, which are called mutations, do cause genetic disorders. Sometimes, we just have to inherit a mutation from one our parents to develop the disease. These are what are known as autosomal dominant diseases, and one example of such is Huntington’s disease.
But there are many diseases that are known as autosomal recessive diseases, which is whenchildren can only get the disease if both parents are carriers of the mutation. So if only one of the parents is affected they would be considered to be a safe carrier of the mutation.
We can help you have healthy children by carrying out genetic testing of more than 2000 mutations in one blood sample taken from you or your partner to rule out more than 250 autosomal recessive and X-linked diseases. Overall these diseases can affect 1 out of every 100 new-borns. The molecular study is carried out together with a chromosomal study by means of karyotyping and proper genetic counselling.