Neurofibromatosis Type 1 (NF1) Sequencing & Del/Dup

Synonyms

  • LAB14563
  • NEUROFIBROMATOSIS TYPE 1(NF1)
  • SPRED1

Cerner Name

Neurofibromatosis Type 1(NF1)

Clinical Info

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

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

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

Results
Component Name Base Name Common Name External Name
NF1 PANEL NF1PANEL NF1 PANEL Neurofibromatosis Type 1 (NF1) Panel

Result Interpretation

See Report

Forms
Flow/Mol/Cytog - No Subgroup LAB14563 build edit