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Familial Mediterranean Fever (MEFV) Known Mutation 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 Known Mutation Analysis
Test Code:
MEFV KNWN
Test Description:
Analysis of the MEFV gene for known familial mutations.
Synonyms:
MEFV, FMF, Familial Mediterranean Fever
Indication:
This test is used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known.
Related Tests: Maternal Cell Contamination - DNA  
Maternal DNA is compared to fetal DNA to evaluate whether maternal cell contamination of the fetal sample has occurred.

MEFV Full Gene Sequencing Analysis  

Clinical Links: Familial Mediterranean Fever Gene Review
Availability:
Performed weekly. Not available stat
Turnaround Time:
2 weeks
Methodology:
PCR and 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: 5ug extracted DNA Prenatal Samples:2 T-25 flasks cultured cells (CVS or amnio).

Processing
Do not spin. Refrigerate blood samples which will not be immediately shipped.

Shipping
Room temperature via overnight shipping. Ship cultured cells in appropriate media.
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
For prenatal testing, maternal cell contamination testing is required (ordered separately).
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.