Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

2007370
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Additional Technical Information

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Periodic Fever Syndromes Testing Patient History Form

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

Performed

Varies

Reported

3 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 or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.

Remarks
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

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
04/04/2022
X
03/07/2022
X
X
X
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