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Cystic Fibrosis Genotyping Directory Icon  - Kings Pathology Printer Icon - Kings Pathology

Biochemistry Overview / Directory

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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).

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Sample Requirements

3-5 mL EDTA whole blood (1 mL from infants/neonates).

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Storage and Transport

First class post addressed to:

DNA Laboratory

5th Floor

Tower Wing

Guy’s Hospital

Great Maze Pond

London

SE1 9RT

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Turnaround Time

10 working days, 3 working days for prenatal samples.

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Price

Price available on application - please contact dnadutyscientist@gsts.com

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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

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