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.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Periodic Fever Syndromes with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
Laboratory Developed Test (LDT)
GENES TESTED: ELANE**, LPIN2, MEFV, MVK, NLRP12**, NLRP3, NOD2**, PSTPIP1, TNFAIP3**, TNFRSF1A
** Deletion/duplication detection is not available for this gene.
|Component Test Code*||Component Chart Name||LOINC|
|2007371||Periodic Fever Panel Specimen||31208-2|
|2007374||Periodic Fever Panel Interp||35474-6|
- chronic infantile neurological cutaneous and articular syndrome (CINCA)
- neonatal onset multisystem inflammatory disease (NOMID)
- 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)