Cystic Fibrosis (CF)

Cystic fibrosis (CF) is an autosomal recessive diseases  that is most common in the Caucasian population, occurring in 1 out of every 2,500 - 3,300 newborns.  CF can occur in other ethnic groups. CFTR gene on chromosome 7 accounts for CF.

The assay used here at our lab is a multiplex ARMS technique for the known common mutations in Iranian population and in case of rare mutations,  sequencing is performed.

Genotype-phenotype considerations are important as some mutations associated with mild disease are dominant to alleles usually associated with more severe symptoms, in the compound heterozygous individual.

In our country CF statistics is not currently exactly known, but it is possible much of the idiopathic infertility in males and respiratory diseases especially in infants to be related to mutations in the CFTR gene, a gene  that accounts for the CF. Our lab is actively involved in mutation screening of the CFTR gene in Iranian population and also in  prenatal diagnosis of Cf.

Reasons for CF Testing:

• Confirmation of diagnosis in affected individuals
• Carrier identification in persons with a family history
• Carrier identification in persons currently pregnant or considering pregnancy
• Screening of sperm and egg donors
• Abnormal fetal ultrasound (i.e. echogenic bowel)
• Male infertility (congenital absence of the vas deferens)