Associated disorders

The MEFV gene is associated with autosomal recessive familial Mediterranean fever (MedGen UID: 45811) and rarely autosomal dominant familial Mediterranean fever (MedGen UID: 341987).

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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.

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.

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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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