Abstract

Objective: This study aims to compare the diagnostic effectiveness of fragment analysis and next-generation sequencing methods in Familial Mediterranean Fever (FMF) disease. Data from the study will guide clinicians in the diagnosis of FMF patients

Method: Two hundred and ninety patients with normal (N/N) or heterozygous (M1/N) fragment analysis results had been included in the study in the medical genetics laboratory of Kayseri City Hospital. In these patients, the entire MEFV gene was examined by the NGS analysis method. The mutation profiles of these patients were compared retrospectively. Statistical analysis of the data was performed using SPSS 22.0 package program.

Results: All mutations found in the fragment analysis were also detected by NGS method. Additional mutations were observed in 22 patients in the NGS analysis method. Mutations that were not previously reported in the HGMD, Clinvar and Infevers database were introduced into the literature. The application of NGS method to the patients was found to be statistically significant (p<0.01)

Conclusion: Fragment analysis is a low-cost method that examines the frequent changes in the diagnosis of FMF patients but is insufficient to make a definitive diagnosis. NGS analysis method should be a preferable analysis method, in terms of diagnodtic usefulness.