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Neurofibromatosis Type 1 (NF1) Sequencing
2007159
Ordering Recommendation

Acceptable test to confirm a suspected diagnosis of neurofibromatosis type 1 (NF1) in individuals not meeting NIH clinical criteria.

Mnemonic
NF1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
21-28 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Neurofibromatosis Type 1 (NF1) Sequencing:
Characteristics:
Neurofibromatosis ty1 (NF1) demonstrates extreme clinical variability. Features include: cafe au lait macules, axillary and inguinal freckling, dermal fibromas, Lisch nodules (iris hamartomas), optic glioma, specific osseous lesions such as tibial pseudarthrosis or sphenoid dysplasia, learning disabilities (50 percent), scoliosis, vertebral dysplasia, and somatic overgrowth. Large NF1 locus deletions increase the risk for neurofibroma development, cognitive abnormalities and malignant peripheral nerve sheath tumors (MPNST).
Incidence:
1 in 3000.
Inheritance:
Autosomal dominant; de novo mutations occur in 50 percent of cases.
Penetrance:
100 percent by adulthood.
Cause
: Pathogenic NF1 mutations.
Clinical Sensitivity:
Approximately 77-86 percent of causative mutations are detected by sequencing.
Methodology:
Bidirectional sequencing of the entire coding region and intron-exon boundaries of the NF1 gene.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than NF1 are not evaluated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81408
Components
Component Test Code*Component Chart NameLOINC
2007160Neurofibromatosis I (NF1) Seq Specimen
2007161Neurofibromatosis 1 (NF1) Seq Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • NF
  • NF1 sequencing assay
  • Von Recklinghausen's Neurofibromatosis (NF1) Sequencing