Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Preferred test to confirm a diagnosis of a periodic fever syndrome. Predictive diagnostic or carrier testing in individuals with a family history of a periodic fever syndrome.
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
GENES TESTED: ELANE, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PSTPIP1, TNFAIP3, TNFRSF1A
Hotline History
Hotline History
CPT Codes
81404; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2007371 | Periodic Fever Panel Specimen | 31208-2 |
2007374 | Periodic Fever Panel Interp | 35474-6 |
Aliases
- chronic infantile neurological cutaneous and articular syndrome (CINCA)
- neonatal onset multisystem inflammatory disease (NOMID)
- Behcet
- Blau syndrome
- Cyclic Neutropenia
- Familial Cold Autoinflammatory Syndrome (FCAS)
- Familial Mediterranean Fever (FMF)
- Familial Mediterranean Fever (MEFV) Sequencing
- Hyperimmunoglobulinemia D syndrome (HIDS)
- Majeed Syndrome
- mevalonate kinase
- Muckle-Wells Syndrome
- pediatric granulomatous arthritis
- Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)
- recurrent fevers
- severe congenital neutropenia
- skin eruptions
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)