Carrier DNA test
Carrier testing is another type - it is performed to identify people who are carriers of mutations associated with the occurrence of inherited diseases in an autosomal recessive manner. For this type of disease, the term carrier is a person who only mutates one of two copies of the same gene - they usually don't have any symptoms of the disease. However, the disease can develop in the offspring because of the autosomal recessive inheritance model. This means that the child will get the disease when two mutated versions of the same gene are passed to him - one from the mother and the other from the father. The risk of giving birth to a sick child in the case of confirmation of carrying a given disease in both parents is 25%. However, if the carrier is only one of the parents, the child will definitely be born healthy, but also may be a carrier (the risk is 50%). Among the inherited autosomal diseases, cystic fibrosis (associated with the abnormal CFTR gene), congenital hearing loss (caused by the defective GJB2 gene) or phenylketonuria (associated with the PAH gene mutation) are mentioned recessively. Carrying test is recommended for people planning pregnancy - thanks to that it will be possible to estimate the risk of having a sick child. In particular, this type of examination should be carried out on persons whose families already had diseases inherited in an autosomal recessive manner. In addition, the test must be carried out when the carrier of the disease has already been confirmed for one of the future parents.