CYSTIC FIBROSIS

ANALYSIS OF THE CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

Cystic fibrosis has a prevalence of approximately 1 in 2500 live births and a carrier frequency of 1 in 25. To date more than 1600 variants have been reported in the CFTR gene. The most common disease-causing variant is a 3 base pair deletion, p.Phe508del (previously known as DF508 or ΔF508) in exon 10, which accounts for 75-80% of CFTR disease-causing variants in Britain.

Analysis of the CFTR gene is carried out using a targeted screen of 38 disease-causing variants by Sanger sequencing (see table). These variants account for approximately 92.5% of UK CFTR variants.

Uncertainty of measurement for the assay is available upon application to the laboratory.

Variants detected by this assay:

p.Phe508del

c.3773dup

c.579+1G>T

p.lle507del

p.Asn1303Lys

c.1766+1G>A

p.Val520Phe

p.Gly85Glu

c.2657+5G>A

p.Arg117His

p.Ala455Glu

p.Arg1162Ter

p.Gly542Ter

p.Arg334Trp

c.3744delA

p.Gly551Asp

c.948del

c.2988+1G>A

p.Arg553Ter

p.Arg347His

c.262_263del

p.Arg560Thr

p.Arg347Pro

c.2052del

p.Ser549Arg

c.2051_2052delinsG

p.Gly178Arg

p.Ser549Asn

c.1585-1G>A

p.Gly551Ser

c.3528del

c.489+1G>T

p.Gly1244Glu

p.Trp1282Ter c.3718-2477

p.Ser1251Asn

p.Gly1349Asp

p.Ser1255Pro

 

The laboratory participates in the Cystic Fibrosis United Kingdom National External Quality Assessment Service (UK NEQAS) scheme and the European Molecular Genetics Quality Network (EMQN) sequencing scheme.