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Athena #647 Neurofibromatosis Type 1 Deletion Test
MessageFree parental testing may be offered if needed for result interpretation. Please note NF1 duplication testing is not available at this time. No informed consent required.
Test Code
647
CPT Codes
81479(1)
Preferred Specimen
Whole Blood
Minimum Volume
10 mL
Other Acceptable Specimens
Contact lab director for alternate specimen type
Transport Container
lav(EDTA)
Transport Temperature
Refrigerated
Specimen Stability
Refrigerated
Methodology
MLPA
Report Available
21-28 days
Reference Range
no deletions 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"
