Neurofibromatosis Type 1 (NF1) and Legius Syndrome Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of neurofibromatosis type 1 or Legius syndrome. It is also suitable for individuals with multiple café au lait macules without other clinical manifestations or for those with a family member suspected of having these syndromes but without prior genetic testing. Additionally, it can be used when there is no access to specific variant information for a family member with a confirmed diagnosis.
Special Instructions
Testing requires an order from a qualified healthcare provider. Specimen types accepted include Blood, Buccal, Saliva, and Tissue. A completed online order or paper test requisition form must be submitted with the specimen.
Limitations
The performance characteristics of this test have been validated by PreventionGenetics following CAP and CLIA regulations. This test has not been cleared or approved by the FDA. It may not detect all pathogenic variants in the NF1 and SPRED1 genes.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided