Periodic Fever Syndromes Panel (7 genes)

NY Approved

Test Overview

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

Test Details

Genes

ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A

Conditions

  • Chronic Infantile Neurologic Cutaneous and Articular Syndrome
  • Cyclic Neutropenia
  • Familial Cold Autoinflammatory Syndrome
  • Familial Cold Urticaria syndrome
  • Familial Hibernian Fever
  • Familial Mediterranean Fever
  • Hyper-IgD Syndrome
  • Majeed Syndrome
  • Muckle-Wells Syndrome
  • Neonatal Onset Multisystem Inflammatory Disease
  • TNF Receptor-Associated Periodic Syndrome

Lab Method

  • Next-Gen Sequencing

Ordering Information

Test Code: 367
CPT Codes*: 81404x1, 81479x3
ABN Required: No
Turnaround Time**: 3 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs