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Test ID: MEFVZ MEFV Gene, Full Gene Analysis

Useful For

Confirmation of familial Mediterranean fever (FMF) for patients with clinical features

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

MEFV Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease which is most prevalent in Mediterranean populations (Turks, Armenians, Sephardic Jews, Arabs), where the incidence is approximately 1 in 400 to 1 in 1000. FMF has been reported in other populations as well.

 

FMF is characterized by recurrent febrile episodes with associated abdominal pain, pleuritis, arthritis, and, rarely, pericarditis and meningitis. Attacks typically occur 1 to 2 times per month and last 1 to 3 days. Age of onset is typically before 10 years. Amyloid A (AA) type amyloidosis is a severe complication of FMF which can lead to renal failure. Clinical features vary and some individuals with FMF present with amyloidosis as the first clinical manifestation of disease (classified as FMF type 2).

 

FMF is caused by mutations in the MEFV gene encoding pyrin. FMF is typically inherited in an autosomal recessive fashion, but heterozygous mutation carriers may also develop symptoms.

 

Ongoing prophylactic treatment with colchicine has been shown to reduce frequency and severity of febrile attacks and inhibit development of amyloidosis in the majority of patients with FMF. In particular, patients with 1 or 2 copies of the M694V mutation are typically responsive to colchicine treatment.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations will be evaluated according to the American College of Medical Genetics and Genomics (AMCG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Shohat M, Halpern GJ: Familial Mediterranean fever- a review. Genet Med 2011 Jun;13(6):487-498

3. Ben-Chetrit E, Touitou I: Familial Mediterranean Fever in the World. Arthritis Rheum 2009 Oct 15;61(10):1447-1453

4. Avi Livneh PL, Zemer D, Zaks N, et al: Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997 Oct;40(10):1879-1885

Day(s) and Time(s) Performed

Performed Weekly; Varies

Analytic Time

14 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81404-MEFV (Mediterranean fever) (eg, familial Mediterranean fever), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MEFVZ MEFV Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53978 Result Summary 50397-9
53979 Result In Process
53980 Interpretation In Process
53981 Additional Information 48767-8
53982 Specimen 31208-2
53983 Source 31208-2
53984 Released By No LOINC Needed

Forms

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular