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NLRP3 Exon 3 Sequencing

New York
Approved


Genes

NLRP3 (CIAS1)

Conditions

  • Chronic Infantile Neurologic Cutaneous and Articular Syndrome
  • Familial Cold Autoinflammatory Syndrome
  • Familial Cold Urticaria syndrome
  • Muckle-Wells Syndrome
  • Neonatal Onset Multisystem Inflammatory Disease

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
  • Prenatal diagnosis

Lab Method

  • Capillary Sequencing

Test Code

217

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.