• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The MEFV gene is associated with autosomal recessive familial Mediterranean fever (FMF) (MedGen UID: 45811) and has been reported in autosomal dominant familial Mediterranean fever (FMF) (MedGen UID: 341987) (PMID: 18648395, 20485448, 23505238).

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Invitae tests that include this gene:

Pathogenic variants in the MEFV gene are the only known cause of familial Mediterranean fever (PMID: 24282415).

MEFV encodes the pyrin (or marenostrin) protein whose function is not entirely understood. It is thought to regulate the inflammatory process via interaction with microtubules. Pyrin is expressed in neutrophils, eosinophils and monocytes. Pyrin may play a role in directing the migration of these white bloods cells to the site or inflammation and slow down or stop inflammation when it is no longer required in order to prevent damage to the individual’s own tissues (PMID: 21358337).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MEFV NM_000243.2