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Familial Mediterranean Fever (MEFV) Sequencing Analysis

Familial Mediterranean Fever (FMF) is the most common periodic fever syndrome and is characterized by recurrent episodes fever, which can be accompanied by a rash and painful inflammation involving the abdomen, chest, and joints. Onset of episodes is typically in childhood or the teenage years. Amyloidosis, the build up of protein deposits in the body’s organs, is the most severe complication of FMF and can lead to kidney failure. Symptoms of FMF are variable, even between members of the same family. FMF primarily affects individuals of Mediterranean descent and is less common in other populations. Many patients respond to colchicine treatment.

MEFV is the only gene in which mutations are currently known to cause FMF. There are several common mutations, including c.2080A>G (p.Met694Val). Classic FMF typically follows an autosomal recessive inheritance pattern, with two MEFV gene mutations identified in an individual. However, in rare cases individuals with non-classic FMF or a mild clinical presentation have a single MEFV gene mutation.

Test Name: MEFV Full Gene Sequencing Analysis
Test Code:
MEFV SEQ
Test Description:
Polymerase Chain Reaction (PCR) followed by sequence analysis of the entire coding region (10 exons) of the MEFV gene.

Sequence analysis may detect small intragenic deletions/insertions and missense, nonsense, and splice site mutations; however, exonic or whole-gene deletions/duplications are not detected by this method.
Synonyms:
MEFV, FMF, Familial Mediterranean Fever
Indication:
MEFV full gene sequencing is indicated for individuals with the following clinical features:
• Fever plus one or more major signs (includes abdominal pain, chest pain, joint pain or rash) and one minor sign (increased erythrocyte sedimentation rate (ESR), leukocytosis, elevated serum concentration of fibrinogen)

• Fever plus two minor signs (increased erythrocyte sedimentation rate (ESR), leukocytosis, elevated serum concentration of fibrinogen)

• Individuals with clinical features of FMF who have had targeted mutation analysis and only one mutation identified.
Related Tests: MEFV Known Mutation Analysis  
This test is used for carrier testing at-risk family members when family mutations are known, or for prenatal testing.

Clinical Links: Familial Mediterranean Fever Gene Review
Familial Mediterranean Fever Genetics Home Reference
Availability:
Mon - Fri
Turnaround Time:
2-3 weeks
Methodology:
PCR followed by DNA sequencing
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top). DNA: 5 micrograms extracted DNA.

Processing
Do not spin. Keep at room temperature.

Shipping
Room temperature via overnight shipping.
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
None.
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.