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Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture.

David H Abramson
Published in: Ophthalmic genetics (2022)
Analysis of cfDNA from blood of retinoblastoma patients can be used to diagnose and manage retinoblastoma and reflect an accurate molecular profile of RB1 abnormalities of the intraocular tumor. Analysis of the germline with the buffy coat detects very low levels of mosaicism not detected with conventional methods. Liquid biopsy for retinoblastoma is already in clinical use and offers information not available with any other technique.
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