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  • Test code: 04313
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Familial Mediterranean Fever Test

Test description

The Invitae Familial Mediterranean Fever Test analyzes MEFV, the only gene known to cause familial Mediterranean fever (FMF). This test is indicated for any individual in whom a diagnosis of FMF is suspected based on clinical symptoms, laboratory findings, or positive family history.

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Primary panel (1 gene)
Add-on Additional Periodic Fever Syndromes Genes (11 genes)

Phenotypic features of FMF can overlap with other periodic fever syndromes. Given the significant phenotypic overlap between these conditions, analyzing other genes associated with periodic fever syndromes may be appropriate. These genes may be included at no additional charge.

ADA2 ELANE LPIN2 MVK NLRC4 NLRP12 NLRP3 PSMB8 PSTPIP1 TNFRSF1A TRNT1

Alternative tests to consider

  • familial Mediterranean fever

To view the complete clinical description of this panel, click here.

Familial Mediterranean fever is inherited in an autosomal recessive or autosomal dominant pattern.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ADA2 NM_001282225.1
ELANE NM_001972.2
LPIN2 NM_014646.2
MEFV NM_000243.2
MVK NM_000431.3
NLRC4 NM_021209.4
NLRP12 NM_144687.3
NLRP3 NM_004895.4
PSMB8 NM_148919.3
PSTPIP1 NM_003978.3
TNFRSF1A NM_001065.3
TRNT1 NM_182916.2