Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion
Use
This test is intended for individuals with a high clinical suspicion for disease caused by the specific gene deletion or duplication. It is particularly relevant for patients whose prior genetic testing was negative or those who have a single variant associated with autosomal recessive disease in the relevant gene. Additionally, it is beneficial for family members of patients who have tested positive for the cerebral cavernous malformations associated with CCM2 gene deletions/duplications/inversions.
Special Instructions
The test offers targeted family testing. STAT testing is available where the procedure is expedited for an additional fee, with the report being delivered in 2 weeks if prioritized. For convenience, the test can be ordered online via myPrevent or through a faxed test requisition form.
Limitations
This genetic test specifically targets the exons 2-10 deletions within the CCM2 gene. It may not detect all possible mutations related to cerebral cavernous malformations, including point mutations outside the specified exons or in other related genes. Such specific focus means that the test would not cover duplications or other structural anomalies not involving the targeted deletion area. Consequently, individuals with negative test results may still carry mutations or variations that this test does not detect.
New York Approved
Methodology
PCR-based (PCR)
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