Retinoblastoma via the RB1 Gene

Casandra

Casandra Test Code PG31052Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 4501

Retinoblastoma via the RB1 Gene

Clinical Use

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

Testing may be conducted on various specimen types, including blood, buccal cells, saliva, or tissue. PreventionGenetics LLC follows the validation standards set by CAP and CLIA. It is essential for the ordering process to be initiated by a qualified healthcare provider with complete documentation and informed consent. Any additional instructions, such as preferences for report transmission or hold/priority testing options, should be clearly indicated in the order form.

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.

Test Details