In the Region of Crete and Ikaria Island, a pilot programme of free genetic testing for the p.Phe508del (F508del) variant of Cystic Fibrosis and Spinal Muscular Atrophy is being implemented. The p.Phe508del (F508del) variant is the most common genetic mutation associated with Cystic Fibrosis and is detected in more than 50% of carriers of the disease.
The programme is implemented by the Genetics Department of the Institute of Child Health (CYP), in the framework of the “PROLAMVANO” programme and the National Prevention Programme “Spyros Doxiadis” of the Ministry of Health, with the participation of public health structures. The relevant FEK is available here.
The test is performed by simply taking blood from a finger and is for women of reproductive age between 20-35 years old. In case of detection of a carrier, testing of the reproductive partner is also available, as well as genetic counselling from the Child Health Institute. According to the information provided by the 7th YPE of Crete, women with a family history can also be tested from the age of 17. Blood collection is carried out through the public health facilities in Crete and Ikaria and those interested can contact the Health Centres, TOMYs and hospitals in the two regions for more information.
This is a pilot implementation of the programme, aimed at strengthening prevention and awareness of serious inherited diseases such as Cystic Fibrosis.
It is recalled that about 1 in 20-25 Greeks, i.e. more than 500,000 people in our country, are asymptomatic carriers of Cystic Fibrosis, without being ill themselves. However, when both parents are carriers, there is a 25% chance of a child being born with Cystic Fibrosis in every pregnancy.
Cystic fibrosis is a serious hereditary disease that mainly affects the respiratory and digestive systems. Early information, gestational screening and genetic counselling can provide reproductive options to prospective parents before pregnancy, making an important contribution to family planning.
In addition, the Genetics Department of the Institute of Child Health performs free of charge full genetic testing in cases of newborns with suspected Cystic Fibrosis, as they arise from the implementation of the newborn screening programme.
🔗 See detailed information on genetic testing of Cystic Fibrosis carriers, prenatal and neonatal screening, as well as the available prevention and diagnosis options in Greece on our Association’s website:
cysticfibrosis.gr/prolipsi-diagnosis
