Familial Mediterranean Fever (MEFV) Sequencing
Also known as: FMF NGS
Use
Used to confirm a diagnosis of familial Mediterranean fever (FMF) in symptomatic individuals and to guide appropriate treatment options. It is also useful as a diagnostic or carrier test for individuals with a family history of FMF. Familial Mediterranean fever is characterized by recurrent, short-lived attacks of fever, abdominal pain, joint pain, and/or skin rashes with variable symptoms and frequency. Renal amyloidosis is a common complication in untreated individuals.
Special Instructions
Informed consent for genetic testing is required for NY patients. Specimens from New York clients will be sent to a New York state-approved laboratory. It is advised that medical management relies on clinical findings and family history. If there is a familial variant not detectable by this assay, further testing is recommended.
Limitations
A negative result does not exclude a diagnosis of FMF. The test detects variants within the coding regions and intron-exon boundaries of the MEFV gene only. Variants in regulatory regions and deep intronic variants will not be identified. It may not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions. The presence of pseudogenes, repetitive, or homologous regions may cause technical limitations.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 66746-9
- 35138-7
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |