Fig. 3 | Genetics in Medicine

Fig. 3

From: Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic

Fig. 3

Familial Mediterranean fever (FMF) strip assay: an example of targeted mutation analysis. This particular assay (ViennaLabs, Vienna, Austria) is designed to detect 12 common MEFV mutations by polymerase chain reaction and reverse hybridization. Mutations tested for in this particular assay include E148Q, P369S, F379L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, and R761H. Mutations screened in targeted mutation panels may vary among clinical laboratories. The patient sample shown has two heterozygous mutations (M860I [G/C] and V726A) confirming a (compound heterozygote) positive diagnosis of FMF in this patient.

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