Feedback
Familial Mediterranean Fever (MEFV) Sequencing
2002658
Ordering Recommendation

Preferred test for suspected familial Mediterranean fever.

Mnemonic
FMF FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
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 theentire 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.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81404
Components
Component Test Code*Component Chart NameLOINC
2002659FMF FGS Specimen31208-2
2002660Familial Mediterranean Fever (MEFV) Int36925-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • FMF sequencing