Cystic Fibrosis Genotyping
Biochemistry Overview / Directory
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).
Sample Requirements
3-5 mL EDTA whole blood (1 mL from infants/neonates).
Storage and Transport
First class post addressed to:
DNA Laboratory
5th Floor
Tower Wing
Guy’s Hospital
Great Maze Pond
London
SE1 9RT
Turnaround Time
10 working days, 3 working days for prenatal samples.
Price
Price available on application - please contact dnadutyscientist@gsts.com
Contacts
For general enquiries please contact dnadutyscientist@gsts.com
Other contacts:
Mr Nick Parkin
Tel: 020 7188 1714
e-mail: nicholas.parkin@gsts.com
or
Dr Stephen Abbs
Head of DNA Laboratory
Tel: 020 7188 2582
e-mail: stephen.abbs@gsts.com
