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NF1 Sequencing & Del/Dup

New York




  • Neurofibromatosis Type 1

Clinical Utility

  • Establish or confirm a clinical diagnosis Identification of at-risk family members
  • Development of an appropriate evaluation and management
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies

Lab Method

  • MLPA
  • Next-Gen Sequencing

Test Code


CPT Codes*


ABN Required


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.

**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.