New Search

Laboratory Test Directory

Neurofibromatosis Type 1 Known Familial Mutation Testing


Name Method Department Units
Neurofibromatosis Type 1 Known Mutation Sanger sequencing
Send Out Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

6 mL 6 mL

Room temperature - 1 week(s)

Specimen Preparation

  • Mix EDTA tube by gentle inversion immediately after collection
  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Wrong collection tube
  • Centrifuged specimen
  • Delayed or improper handling
  • Frozen specimen
  • Clotted specimen


This test is for targeted detection of a previously characterized Neurofibromatosis Type 1 (NF1) mutation within the family. Please complete attached requisition for this testing. Under the "Known Mutation Testing" select the option for KT2: Targeted testing for a known familial mutation, and complete previous testing history on the first page. 

CPT Code

  • 81403