Cystic Fibrosis (CF) is the most common life-limiting autosomal recessive disorder in the Caucasian population.
Yourgene CF-EU2v1 kit is used for diagnosis of quistic fibrosis through qualitative detection of the most common CFTR gene mutations found in european population in DNA extracted from whole blood (EDTA preserved) and dried bloodspot samples.
The assay identifies 50 mutations in total and also analyzes intron 8 polyT tract with accurate measurement of the adjacent TG repeat. Can distinguish between individuals who are heterozygous and homozygous for the all mutations and variants with the exception of S549R(T>G).
For maximum coverage in the diagnosis of cystic Fibrosis, Yourgene CF-EU2 kit can be combined with the Iberian Panel kit (12 additional mutations).
CFTR gene mutations have also been associated with male infertility problems such as Congenital Unilateral Absence of the Vas Deferens (CUAVD) and Congenital Bilateral Absence of the Vas Deferens (CBAVD), so Elucigene CF-EU2 kit also provides a useful screening tool for these diseases. (More kits for diagnostic of male infertility, here)
SPECIFICATIONS
Due to the nature of the design of the CF-EU2v1 kit the presence of insertions or deletions between two opposing primers will result in size changes to all the amplicon produced between these two primers.
Therefore, in addition to the 50 mutations detected by the CF-EU2v1 kit, any insertions and deletions within the amplified target sequences can be detected by the change in expected amplicon size in the wild type (B) mix.
