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Athena #646 Neurofibromatosis Type 1 DNA Sequencing Test
MessageFree parental testing may be offered if needed for result interpretation
Test Code
646
CPT Codes
81408(1)
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?)
frozen
Methodology
DNA Sequencing
Setup Schedule
M-F
Report Available
21-28 days
Reference Range
no mutations identified
Clinical Significance
"Major features of NF1 include a wide range of severity marked by neurofibromas, caf? au lait spots, Lisch nodules, freckling, and optical gliomas.
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. Identifies mutations in the NF1 gene
"
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. Identifies mutations in the NF1 gene
"
