Detection of 50 most common cystic fibrosis mutations

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. dF508 mutation, is found in 1:30 Caucasians and is most common mutation that is found in 60% of all CF causing alleles. Test includes 50 most common CF causing mutation in Europeans, including IVS8-5T.

Contacts and Location

Contact 1	Linda Piekuse
Contact 2	Linda Gabrusenoka
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Organisational Unit	Rīga Stradiņš University Scientific Laboratory of Molecular Genetics - Latvia, Rīga

Description

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. dF508 mutation, is found in 1:30 Caucasians and is most common mutation that is found in 60% of all CF causing alleles. Test includes 50 most common CF causing mutation in Europeans, including IVS8-5T.

Specification

Mutations that are detected are: R347H, R347P, 2789+5G>A, 3120+1G>A, 711+1G>T, R334W, I507del, F508del, 3849+10kbC>T, 1677delTA, 1078delT, V520F, L206W, W1282X, R560T, 2347delG, Q890X, R553X, G551D, S549N, M1101K, G542X, 3905insT, Y1092X(C>A), S1251N, 444delA, 1811+1.6kbA>G, 1717-1G>A, R117H, R117C, N1303K, Y122X, 394delTT, G85E, R1066C, 1898+1G>A, W846X, 2184delA, D1152H, CFTRdele2,3, P67L, 2143delT, E60X, 3659delC, 3272-26A>G, 621+1G>T, A455E, R1162X, R1158X, S549R T>G, IVS8-5T(inc. TGn).

Accreditation

CF Network approved participation in External Assment Quality scheme (http://cf.eqascheme.org).

Delivery time

Negotiable. Depends on many factors: for example, number of samples.

Service ID #: 19

Last Updated: 12^th March, 2015

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