Invitae NF2-related Schwannomatosis Test
Use
This test analyzes the NF2 gene, associated with autosomal dominant NF2-related schwannomatosis. It helps in confirming clinical diagnosis, predicting disease progression, guiding therapeutic decisions, facilitating early symptom detection in at-risk relatives, and informing family planning. The condition generally presents with multiple nervous system tumors such as schwannomas and meningiomas. Identification of a disease-causing variant aids in testing and diagnosing at-risk relatives.
Special Instructions
This test is designed for heritable germline mutations and not suitable for somatic mutations in tumor tissue. It employs next-generation sequencing and deletion/duplication analysis, with a sensitivity of >99% for most mutations. Contact Invitae client services for questions about limitations and coverage details.
Limitations
Limitations include potential marginally reduced sensitivity for large insertions/deletions, inability to fully resolve certain variant details like mosaicism, and undetectable structural rearrangements or variants in complex architectures. Promotor and other non-coding region variants are not covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
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