Neurofibromatosis Type 1(NF1) NF1

Synonyms

Allscripts (AEHR) Order Name

Neurofibromatosis Type 1(NF1)

Sunrise Clinical Manager (SCM) Order Name

Neurofibromatosis Type 1(NF1)

EPIC Order Name

Neurofibromatosis Type 1 (NF1) Sequencing & Del/Dup

Clinical Info

Establish or confirm a clinical diagnosisIdentification of at-risk family membersDevelopment of an appropriate evaluation and management

Specimen Type

Blood, Other

Specimen Volume

2-5 mL Whole Blood

Container

Lavender top tube or Buccal (Oral Cheek Swab)

Collection Instructions

Container/Tube:  Lavender Top Tube
Specimen: 2-5 mL Whole Blood

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Deletion/Duplication Analysis
MLPA
Next-Gen SequencingGeneDx Code: 962

Days Performed

TAT: 3 Weeks

Performing Laboratories

GeneDx

CPT

81405
81408

PDM

245204

Result Interpretation

Forms