Familial Mediterranean Fever: MEFV (Full Gene Sequencing)

CPT: 81404
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Test Details

Test Includes

This test covers all coding nucleotides of gene MEFV, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Use

Can confirm a clinical diagnosis of FMF, detect carriers, and allow early diagnosis in family members, guiding prophylactic measures

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

Methodology

DNA sequencing

Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Additional Information

Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting primarily Mediterranean populations (Arabs, Armenians, Jews, and Turks). This disorder has two distinct phenotypes. Type 1 FMF is characterized by periodic, short episodes of fever and inflammation including serositis, peritonitis, synovitis, pleuritis, and, less frequently, pericarditis, and meningitis. If left untreated, some patients develop amyloidosis and renal failure. Type 2 FMF is characterized by amyloidosis as the first clinical manifestation of FMF. FMF symptoms almost always occur before 20 years of age, and often before 10 years of age. FMF has been linked to mutations in the gene MEFV, which codes for the protein pyrin, a component of the proinflammatory pathway. Genetic testing can confirm the diagnosis of FMF and, once the mutations causing FMF in a specific family have been identified, can also identify presymptomatic individuals among the patient’s relatives and allow prophylactic measures. By distinguishing presymptomatic family members from heterozygous carriers, genetic testing can help to protect heterozygous carriers from unnecessary lifelong preventive treatment.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 800-435-4363 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible; use of improper anticoagulant

Clinical Information

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252800.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

References

Ben-Chetrit E, Touitou I. Familial Mediterranean fever in the world. Arthritis Rheum. 2009; 61(10):1447-1453. 19790133
Haghighat M, Derakhshan A, Karamifar H. Familial Mediterranean fever. Shiraz E-Medical Journal. 2006; 7(2). Accessed July 14, 2010.
Online Mendelian Inheritance in Man. Familial Mediterranean fever gene; MEFV. Baltimore, Md: Johns Hopkins University. OMIM 608107. Last updated January 13, 2010. http://www.ncbi.nlm.nih.gov/omim/608107. Accessed July 8, 2010.
Samuels J, Aksentijevich I, Torosyan Y, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998 Jul; 77(4):268-297.9715731
Shohat M, Halpern GJ. Familial Mediterranean fever. GeneReviews. 2009. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fmf. Accessed 070910. 20301405

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252797 Fam. Mediter. Fever: MEFV 41091-0 252199 Routing 41091-0

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