Purpose of the test
Cystic fibrosis mutation testing is carried out using DNA sequencing of the most common cystic fibrosis mutations. This test can detect heterozygous and homozygous mutations in selected regions of the CFTR gene that are chosen to cover at least 87.65% of UK Caucasian cystic fibrosis mutations and 76% of world wide cystic fibrosis mutations. The test can distinguish between individuals who are homozygous or heterozygous for each mutation and can detect both the intron 8 polyT (5T/7T/9T) and TG tract (10TG/11TG/12TG/13TG) repeat variants. The analysed regions include mutations most commonly associated with meconium ileus (F508del, G542X, G551D) and with congenital bilateral absence of the vas deferens (F508del, R117H, polyT repeat).
3-5 mL EDTA whole blood (1 mL from infants/neonates).
Storage and Transport
First class post addressed to:
Great Maze Pond
10 working days, 3 working days for prenatal samples.
Price available on application - please contact firstname.lastname@example.org
For general enquiries please contact email@example.com
Mr Nick Parkin
Tel: 020 7188 1714
Dr Stephen Abbs
Head of DNA Laboratory
Tel: 020 7188 2582