Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

2007370
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Example Reports
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Additional Technical Information

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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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

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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