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.

Mnemonic
PRFEVERPAN
Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks

Submit the Patient History Form for Periodic Fever Syndromes with the Electronic Packing List.

Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

GENES TESTED: ELANE**, LPIN2, MEFV, MVK, NLRP12**, NLRP3, NOD2**, PSTPIP1, TNFAIP3**, TNFRSF1A

** Deletion/duplication detection is not available for this gene.

Hotline History
N/A
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
* 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
  • 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)
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication