GENETIC APPROACH
PGT IN SINGLE GENE DISORDERS

PGT in Single Gene Disorders

Single Gene Disorders are genetic disorders caused by the function disruptions of the units that we call "gene" encoded in our DNA. It is well known that such genetic diseases increase when spouses are related.

It is very important to diagnose such diseases in the prenatal period (prenatal diagnosis) and even in the embryo stage (preimplantation diagnosis) due to the high frequency of consanguineous marriage in our country. It is also possible to make preimplantation period diagnoses of all single gene diseases that can be recognized postnatally or prenatally.

Preimplantation genetic testing of single gene disorders is based on DNA analysis of single cell. We are able to perform PGT in almost all single gene diseases such as Cystic Fibrosis, Thalassemia and SMA.