Targeted detection of parental mutations

Home Targeted detection of parental mutations

Cystic fibrosis (CF) is the most common monogenic disorder in Caucasians. Carriers are estimated to be 4-5% of the general population and the birth rate of children affected by the disease is approximately 1:2000-1:2500 live births.

It is a genetic disease that follows autosomal recessive mode of inheritance; both parents have to be carriers of the disease and their children have 25% chance to be affected by cystic fibrosis.

The genetic variability is very high, more than 1900 different mutations in the responsible gene (Cystic Fibrosis Transmembrane Regulator, CFTR) have been described worldwide. The mutations and their respective frequencies have a distinct ethnic and geographic distribution.

Method

The parents should have undergone testing for detection of pathogenic variants in the CFTR gene. If both parents are carriers of the disease, the embryo can be tested in order to determine if it is affected by cystic fibrosis. A combination of molecular techniques is used according to the genotype of the parents.

Sample type: Amniotic fluid or Chorionic villi

Time to result: 1 week