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Periodic Fever Syndromes Deletion/Duplication, 6 Genes
2007366
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Mnemonic
PRFEVER DD
Methodology
Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-4 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 Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Components
Component Test Code*Component Chart NameLOINC
2007367Periodic Fever Del/Dup Specimen
2007368Periodic Fever Del/Dup Interp
* 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)
  • Cyclic Neutropenia
  • Familial Cold Autoinflammatory Syndrome (FCAS)
  • Familial Mediterranean Fever (FMF)
  • Familial Mediterranean Fever (MEFV) Sequencing
  • Hyperimmunoglobulinemia D syndrome (HIDS)
  • LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1A
  • Majeed Syndrome
  • Muckle-Wells Syndrome
  • Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)