Familial Mediterranean fever test kit Bosphore

genetic

Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder, which occurs commonly in Mediterranean countries causing symptoms such as recurrent acute fever, abdominal pain, joint pain etc.. FMF prevalence varies in Turkey locally. However, 0-5 out of every 1000 person have FMF disorder. Marenostrin encoding fever gene (MEFV) is associated with FMF, a gene which is located on the short arm of chromosome 16 (16p13.3), mapped to the 80 kb consisting of 10 exons. Although mutations occur in all exons, clinically the most common mutations are revealed in exon 2, exon 3, exon 5 and exon 10. M694I, M694V, M680I/GA, M680I/GC, V726A, E148Q, R761H, A744S, K695R, P369S, F479L, R202Q, I692del, K695M and M694L are among the most frequently observed mutations of MEVF in various geographical regions. Bosphore FMF Mutation Analysis Kit v1, is a Real-Time PCR based in-vitro diagnostic medical device, IVD CE marked according to 98/79/EC Directive. Bosphore FMF Mutation Analysis Kit v1 detects the mutations M694I, M694V, M680I-GA, M680I-GC, V726A, R761H on exon 10 and E148Q mutation on exon 2 of MEFV gene in human blood samples. Wild type alleles are amplified and fluorescence detection is accomplished using the HEX filter. Mutant alleles are amplified and fluorescence detection is accomplished using the FAM filter. In the 1st well: M694I mutation, 2nd well: M694V mutation, 3rd well: Guanine-Adenine alteration resulted M680I mutation, 4th well: Guanine-Cytosine alteration resulted M680I mutation, 5th well: V726A mutation, 6th well: R761H mutation, 7th well: E148Q mutations are detected.