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Detection of Cystic fibrosis mutation dF508 (CFTR gene)

dF508 mutation (alternative names: rs113993960, NM_000492.3:c.1521 1523delCTT (p.Phe508del, F508del)), is found in 1:30 Caucasians and in homozygous state or in compound heterozygous state with other CF causing allele is causing Cystic fibrosis. Worldwide, the ∆F508 mutation is responsible for approximately two thirds (66%) of all CF chromosomes (Bobadilla JL, 2002).

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

dF508 mutation (alternative names: rs113993960, NM_000492.3:c.1521 1523delCTT (p.Phe508del, F508del)), is found in 1:30 Caucasians and in homozygous state or in compound heterozygous state with other CF causing allele is causing Cystic fibrosis. Worldwide, the ∆F508 mutation is responsible for approximately two thirds (66%) of all CF chromosomes (Bobadilla JL, 2002).

Specification

Sample DNA or material for DNA isolation. dF508 mution in patients DNA is detected by heteroduplex PCR and PAGE.

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.

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