Retinoblastoma via the RB1 Gene
Use
This test is designed for individuals with a clinical or suspected diagnosis of retinoblastoma, including those with either bilateral or unilateral presentations. It is also suitable for individuals who have a family member with presumed retinoblastoma and have not undergone previous genetic testing, as well as for individuals unable to access variant information of a family member with genetically confirmed retinoblastoma. The test may aid in the confirmation of the diagnosis and provide genetic insight that may be relevant for family planning or targeted therapy.
Special Instructions
Not provided.
Limitations
This test has not been cleared or approved by the FDA. While PreventionGenetics follows CLIA and CAP standards for test validation, there may be limitations in detecting all possible mutations or variants within the RB1 gene. Some very subtle variants, deletions, or duplications might not be detected based on the technology used. Moreover, variants detected by this test may have unknown clinical significance at the time of reporting, and should be correlated with clinical findings and family history considerations.
Methodology
NGS (Targeted)
Biomarkers
RB1
Gene
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