Ordering Recommendation

Preferred test when clinical symptoms are suspicious for 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.

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. 

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81404

Components

Component Test Code* Component Chart Name LOINC
2002659 FMF FGS Specimen 31208-2
2002660 Familial Mediterranean Fever (MEFV) Int 36925-6
* 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
Familial Mediterranean Fever (MEFV) Sequencing