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. 

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