Molecular Diagnosis of Cystic Fibrosis
Cystic fibrosis (CF), also known as mucoviscidosis, is the most common inherited disorder among the Caucasian population. It is estimated that approximately 1 in 2,000–2,500 children are born with cystic fibrosis each year in Greece, while 4–5% of the population are considered carriers.
Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), located on chromosome 7.
Symptoms typically appear within the first year of life but may also manifest later in childhood. The severity of symptoms varies. Respiratory symptoms include persistent cough, wheezing, shortness of breath, and recurrent chest infections that can lead to lung damage.
Molecular testing for CFTR mutations, with a detection rate of >98%, is performed using NGS (Next-Generation Sequencing) analysis.
The test is accredited according to ISO 15189:2022 by the Hellenic Accreditation System (ESYD).
Sample type: Peripheral blood, amniotic fluid, chorionic villi
Turnaround time: 2 weeks