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Athena #648 NFI evaluation
Test Code648
CPT Codes
81408(1), 81479(1)
Includes
Neurofibromatosis Type 1 Deletion Test, Neurofibromatosis Type 1 DNA Sequencing Test
Preferred Specimen
whole Blood
Minimum Volume
10 mL
Other Acceptable Specimens
Contact lab director for alternate specimen type
Instructions
Ship within 24 hours
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
DNA Sequencing and MLPA
Setup Schedule
M-F
Report Available
21-28 days
Reference Range
No deletions or point mutations detected
Clinical Significance
"Type of Disorder: Neuro-Oncology
Typical Presentation: Major features of NF1 include a wide range of severity marked by neurofibromas, caf? au lait spots, Lisch nodules, freckling, and optical gliomas.
Indications for Testing: Confirm a diagnosis in suspected cases when the patient does not meet the NIH diagnostic criteria. Early detection will allow for patient surveillance, genetic counselling, family planning.
Disease(s) tested for: Neurofibromatosis Type 1
Detects mutations in the NF1 gene"
Typical Presentation: Major features of NF1 include a wide range of severity marked by neurofibromas, caf? au lait spots, Lisch nodules, freckling, and optical gliomas.
Indications for Testing: Confirm a diagnosis in suspected cases when the patient does not meet the NIH diagnostic criteria. Early detection will allow for patient surveillance, genetic counselling, family planning.
Disease(s) tested for: Neurofibromatosis Type 1
Detects mutations in the NF1 gene"
