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 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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81404
Components
Component Test Code*Component Chart Name
2002659FMF FGS Specimen
2002660Familial Mediterranean Fever (MEFV) Int
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References