Neurofibromatosis 1
Use
Neurofibromatosis 1 (NF1) is one of the most common neurogenetic conditions, affecting around 100,000 individuals in the U.S. This test is crucial for diagnosing NF1, which manifests as pigmented skin lesions known as café-au-lait macules, and can also lead to the development of tumors in the brain and along nerves. The test aims to detect mutations in the NF1 gene that may contribute to these symptoms.
Special Instructions
Family variant testing is offered for blood relatives of patients found to have pathogenic or likely pathogenic variants. Testing must be completed within 90 days of the original report date. More closely related relatives are prioritized for testing.
Limitations
This test is designed to detect >99.9% of described mutations in the NF1 gene. However, the technology may not identify all pathogenic variants, especially those outside the coding exons and adjacent intronic regions. Variants of unknown significance within introns beyond 5 base pairs from the splice junction are not reported.
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