Cystic Fibrosis (Rare)


Cystic Fibrosis, caused by mutations in the cystic fibrosis transmembrane regulator gene (CFTR at 7q31-32), is the most frequent autosomal recessive genetic disorder in Caucasians of European origin. The incidence in the UK in this ethnic group is 1/2500. More than 1500 different mutations are known with the spectrum and frequency varying with ethnic background. The most common variants are tested using commercial kits that achieve a sensitivity of ~90% in North Western Caucasians. We offer molecular genetic testing for rare CFTR mutations which account for the remainder of cases of cystic fibrosis.

Referral information

We accept referrals for mutation scanning to confirm or reduce the likelihood of a clinical diagnosis in children and adults with symptoms of cystic fibrosis and in whom no mutation or only one mutation has been identified. If a confirmed pathological mutation is identified we can offer carrier testing and prenatal diagnosis in at-risk family members.

Price & reporting times

NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.

Test Price (NHS) Price (NHS) TRT
Mutation screening POA POA 56 cd
Single mutation test POA POA 28 cd
Prenatal diagnosis POA POA 3 cd

Test validation & quality assurance - information for users

The combined sequencing and MLPA screen is estimated to detect >99% of all CF mutations.

Sample requirements

Pre-natal: amniotic fluid (minimum 15ml)/chorionic villus biopsy (CVB) (minimum 10mg) sample plus 4ml EDTA maternal blood sample.

Post-natal: 4ml EDTA blood sample or 3ug high quality DNA.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 219700

Gene(s) - CFTR