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Periodic Fever Syndromes Sequencing, 7 Genes

CPT Code(s): 81404 (MEFV); 81479
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.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • chronic infantile neurological cutaneous and articular syndrome (CINCA)neonatal onset multisystem inflammatory disease (NOMID)Cyclic NeutropeniaELANE/ELA2, LPIN2, MEFV, MVK, NLRP3/CIAS1, PSTPIP1, TNFRSF1AFamilial Cold Autoinflammatory Syndrome (FCAS)Familial Mediterranean Fever (FMF)Familial Mediterranean Fever (MEFV) SequencingHyperimmunoglobulinemia D syndrome (HIDS)Majeed SyndromeMuckle-Wells SyndromePyogenic Sterile Arthritis, Pyoderma Gangrenosum, Acne, (PAPA)Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
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