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Diagnostic yield of real-time PCR vs. NGS in pediatric FMF: insights from a Turkish cohort
Emine Göktaş1, Tuğba Deniz Kurnaz Demir1, Ayşe Gül Zamani1
1Department of Medical Genetics, Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.
Objectives:
Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease, especially in Mediterranean populations. This study compares the diagnostic value of real-time PCR and next-generation sequencing (NGS) in a Turkish pediatric cohort and assesses the benefits of comprehensive genetic panels.
Methods:
A total of 478 children with suspected FMF, seen between January 2022 and July 2024, were retrospectively analyzed. All underwent initial MEFV mutation screening via real-time PCR. Patients with negative or inconclusive results (n=39) were further tested using targeted NGS, covering MEFV and other autoinflammatory genes.
Results:
Real-time PCR detected at least one MEFV variant in 211 patients (44.1 %). The most common variants were M694V (41.6 %), E148Q (24.4 %), V726A (12.4 %), and M680I (10.9 %). Among the 39 patients further evaluated with NGS, some had additional or rare variants in MEFV or other genes such as MVK, NOD2, STAT3, and NLRP12, providing additional genetic findings, particularly in PCR-negative cases.
Conclusions:
Real-time PCR is effective for initial MEFV screening. However, NGS enhances diagnostic accuracy by identifying rare or complex variants, supporting its use in unresolved or atypical FMF cases.
