NF1 Panel
Use
The NF1 Panel from GeneDx is intended to aid in the diagnosis of Neurofibromatosis Type 1, a clinically heterogeneous condition characterized by café-au-lait macules, axillary or inguinal freckling, cutaneous neurofibromas, Lisch nodules, plexiform neurofibromas, optic pathway gliomas, skeletal abnormalities, vasculopathy, and learning or behavioral impairment in at least half of affected individuals. It provides comprehensive molecular evaluation by detecting single-nucleotide variants, small indels, and copy-number variants in both NF1 and SPRED1, the genes implicated in NF1 and Legius syndrome, respectively, improving diagnostic accuracy especially in individuals with overlapping phenotypes.
Special Instructions
Not provided.
Limitations
GeneDx’s test limitations note that the test menu, gene list, and technical constraints are subject to change; specific regions not adequately covered or variant types not detectable are detailed in the current online test specifications and may evolve over time.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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