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Erythermalgia/Paroxysmal Extreme Pain Disorder/Small Fiber Neuropathy/Congenital Insensitivity to Pain (SCN9A)


Genes

SCN9A

Conditions

  • Congenital Insensitivity to Pain (CIP)
  • Inherited Erythromelalgia (IEM)
  • Paroxysmal Extreme Pain Disorder (PEPD)
  • Small Fiber Neuropathy (SFN)

Clinical Utility

  • Confirmation of a clinical diagnosis
  • To differentiate SCN9A-related pain disorders from other genetic or environmental causes of pain
  • Carrier testing for individuals with a known familial SCN9A mutation
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TB12

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

6-7 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.

**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.