- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2002659||FMF FGS Specimen||31208-2|
|2002660||Familial Mediterranean Fever (MEFV) Int||36925-6|
- FMF sequencing