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Periodic Fever Syndromes Panel (7 genes)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Recurrence risk
  • Carrier testing in at-risk family members
  • Prenatal diagnosis
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
367
Turnaround Time:
8-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x1, 84311x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
  • 279.4: Autoimmune disease, not elsewhere classified
  • 713.7: Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
  • 277.3: Amyloidosis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
  2. Dode et al., (2002) Arth Rheum 46:2181-2188
  3. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  4. Booty et al., (2009) Arth Rheum 60:1851-1861
  5. Touitou (2001) Eur J Hum Genet 9:473-483
  6. Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  7. Aganna et al., (2003) Arth Rheum 48:2632-2644
  8. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  9. Mandey et al., (2006) Hum Mutat 27:796-802
  10. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
  11. El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19
  12. Shoham et al,, (2003) PNAS 100:13501-13506
  13. Wise et al,, (2002) Hum Mol Genet 11:961-969
  14. Horwitz, M. (1999) Nat Gen 23:433-436
  15. Bellanne-Chantelot (2004) Blood 103: 4119-4125
  16. Dale et al., (2000) Blood 96:2317-2322

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