Familial Mediterranean fever - MEFV gene - new generation sequencing

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Eurofins Biomnis code

FMF

Synonyms
  • FMF
  • OMIM code : *608107 / #249100
  • Periodic disease - FMF
Specialty

Genetics


Clinical significance

Armenian syndrome or Familial Mediterranean Fever is a recessive autosomal disease.With reoccurring episodes of fever associated with serological symptoms of inflammatory. Seriousness of the illness is demonstrated by generalised amylose. This illness affects mainly those that live around the Mediterranean rim. The gene MEFV has been identified and located at 16p13. This genes study will help objectively and diagnostically.

Preanalytics
  • A tube specifically for this analysis : Yes
Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Enclose the specific clinical information form (R36-INTGB : Familial Mediterranean Fever gene study)
Sample must be refrigerated if transport is > 48 hours
Send the tube within 48 hours.
Enclose the specific B12-INTGB request form: Molecular Genetics


Methodology

Long Range PCR Amplification, Long Fragment Sequencing on Oxford Nanopore Technologies Platform.

Turnaround time

1 month


Testing Laboratory

Biomnis Lyon