Cystic Fibrosis Genotyping
Biochemistry Overview / Directory
Purpose of the test
Cystic fibrosis mutation testing is carried out using the Elucigene ™ kit (Tepnel Diagnostics Ltd), which enables the presence or absence of 29 mutations in the CFTR gene to be detected simultaneously using the Amplification Refractory Mutation System (ARMS ™) technology. In addition, the test can distinguish between individuals who are homozygous or heterozygous for the most common (around 70%) mutation, F508del. Mutations detected by the test have been selected on the basis of their reported prevalence in Caucasian European populations, and cover approximately 85% of CF mutations in these populations; frequency and distribution may vary in other ethnic groups. The test panel includes mutations most commonly associated with meconium ileus (F508del, G542X, G551D) and with congenital bilateral absence of the vas deferens (F508del, R117H).
Sample Requirements
1 mL EDTA whole blood (smaller samples may be acceptable from infants/neonates, please ring to discuss).
DNA
Mouthwash samples are acceptable if unable to obtain a blood sample or if recently transfused.
Storage and Transport
Send by overnight first class post.
Turnaround Time
Approximately 2-3 weeks
Price
Price available on application - please contact adrian.turner@kch.nhs.uk. Discounts could be available for significant workloads.
Contacts
Dr Roy Sherwood
Tel: 020 3299 3726
e-mail: roy.sherwood@nhs.net
or
Dr Hagosa Abraha
Tel: 020 3299 4134
e-mail: hagosa.abraha@kch.nhs.uk
