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
Within 21 days  
New York DOH Approval Status
This test is New York DOH approved.
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.





See Compliance Statement C: www.aruplab.com/CS
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 Name
2002659FMF FGS Specimen
2002660Familial Mediterranean Fever (MEFV) Int
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Aliases
  • FMF sequencing