Referrals are accepted for confirmation of a clinical diagnosis, prenatal diagnosis, elucidation of carrier status, and infertility (azoospermia).
From 15th August 2014 testing for mutations is performed using the Luminex xTAG® Cystic Fibrosis 39 Kit [pdf] 247KB. The assay includes 39 CFTR mutations including some of the world’s most prevalent CFTR mutations.
From June 2002 to February 2011, and July 2011 to August 2014 testing for mutations was performed using the ARMS 29v2 multiplex PCR kit [pdf] 21KB. This detects the 29 most common mutations in the CFTR gene (which together account for 85% of CF mutations in Northern European populations).
From March 2011 to-June 2011 the Elucigene CF-EU2 kit. was used to detect the 50 most common mutations in the CFTR gene (which together account for approximately 90% of CF mutations in Northern European populations).
All kits include p.Phe508del (“delta F508″),the most common mutation in the UK, which accounts for 75-80% of CFTR mutations.
Reflex testing of the intron 8 poly-T tract.
Rare mutation detection by MLPA and sequencing available for confirmation of a clinical diagnosis of CF.
SAMPLE REQUIREMENTS & REPORTING TIME
5-10ml blood in EDTA, or DNA
4 weeks for Luminex xTAG® mutation detection and carrier tests
3 days (from receipt of sample) for prenatal tests
8 weeks for full mutation screen
DNA may not be banked long-term. Please contact the laboratory for details of our DNA storage policy.