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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFamilial mediterranean fever


Short information

Curated single gene sequence analysis according to the clinical suspicion familial mediterranean fever

Number of genes
1 Accredited laboratory test
Examined sequence length
2,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MEFV2346NM_000243.3AD, AR

Informations about the disease

Clinical Comment

Familial Mediterranean fever (FMF) is characterized by recurrent painful inflammation in the abdomen, chest and/or joints. Prodromal symptoms include uncomfortable sensations in the areas of later-onset inflammation. FMF usually begins in childhood or teenage years, rarely later. Without treatment, renal amyloidosis in particular may occur. FMF is almost always inherited autosomal recessively, rarely FMF seems to be inherited in autosomal dominant manner, which in many cases is rather to be understood as pseudodominant. Various so-called modifying genes exist. The DNA diagnostic yield is 75-90%, so that inconspicuous genetic findings do not mean that the clinical suspected diagnosis is excluded. If the clinical picture is suggestive of FMF, but DNA sequence analysis is unremarkable, six months of colchicine therapy may lead to the relief of attacks, which may recur after discontinuation, respectively.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1227/


  • Alias: Benign paroxysmal peritonitis
  • Alias: Benign recurrent polyserositis
  • Alias: FMF; familial mediterranean fever, AD/AR (MEFV)
  • Alias: Familial paroxysmal polyserositis
  • Alias: Periodic disease
  • Alias: Polyserositis, AR
  • Alias: Recurrent polyserositis, familial paroxysmal
Heredity, heredity patterns etc.
  • AD
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined