Preferred test when clinical symptoms are suspicious for familial Mediterranean fever.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for Familial Mediterranean Fever (MEFV) Sequencing:
Characteristics: Recurrent episodes of inflammation, fever, abdominal pain, chest pain, joint pain, skin eruptions and the development of renal amyloidosis.
Prevalence: 1 in 1,000 worldwide.
Inheritance: Primarily autosomal recessive; some activating mutations appear to be autosomal dominant.
Cause: Pathogenic MEFV gene mutations.
Clinical Sensitivity: Approximately 80 percent.
Methodology: Bidirectional sequencing of the entire MEFV coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region, intronic mutations and large deletions/duplications will not be detected.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2002659||FMF FGS Specimen||31208-2|
|2002660||Familial Mediterranean Fever (MEFV) Int||36925-6|
- FMF sequencing