NF1/SPRED1 Comprehensive by NGS




Test Mnemonic

NFIB1

CPT Codes

  • 81408 - QTY (1)
  • 81479 - QTY (2)
  • 81405 - QTY (1)

Aliases

  • Legius Syndrome
  • Neurofibromatosis 1
  • Neurofibromatosis Type 1/SPRED1
  • Von Recklinghausen Disease

Includes

  • Substitutions (missense, nonsense, splice variants)
  • Insertions/deletions/duplications of 1-64 bp
  • Single exon or multiple exon deletions/duplications

Performing Laboratory

Univ of Alabama at Birmingham


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
6 mLWhole bloodEDTA (Lavender) AmbientA completed 'NF1/SPRED1 Phenotypic Checklist' must be included with the specimen. Collect 2 EDTA lavender top tubes.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
OtherExtracted DNAOther AmbientMinimum volume of 25 µL at 3 µg, O.D. value at 260:280 nm = or > 1.8

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mL    Whole blood

Stability

Environmental Condition Description
AmbientWhole blood: 7 days; Extracted DNA: 48 hours
RefrigeratedWhole blood: 7 days; Extracted DNA: Indefinitely
FrozenWhole blood: Unacceptable; Extracted DNA: Indefinitely

Days Performed

Mon - Fri

Methodology

Name Description
Deletion/Duplication Analysis 
Next Gen Sequencing 

Reference Range

Special Info

Do not ship on ice. A completed 'NF1/SPRED1 Phenotypic Checklist must be included with the specimen.

Clinical Info

Neurofibromatosis Type 1 (NF1) is a completely penetrant, autosomal dominant disorder with a frequency of 1/3500 births in all ethnic populations. NF1 is a progressive disorder, characterized by multiple café-au-lait spots, neurofibromas, and Lisch nodules, although additional features may develop. NF1 is notorious for its variable expression. About 50% of cases are due to new dominant mutations where neither parent has signs of the disorder.

Patient Info Sheet