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We provide the screening tests for Retinoblastoma – a cancer of one or both eyes that occurs in young children both genders and all races. Retinoblastoma affects about 1 in 15,000 live births, and an estimated 9,000 children develop the cancer each year around the world.
Our lab uses quantitative multiplex PCR to look for whole-exon and multi-exon deletions and duplications in the RB1 gene. This method simultaneously screens for small intra-exon insertions and deletions in RB1. Our lab also performs a QM-PCR test to measure MYCN copy number in any tumor sample that does not have an RB1 mutation. This test detects a new sub-set of retinoblastoma with early age at diagnosis, distinct histology, no RB1 mutations, and huge amplification of the MYCN oncogene. [Rushlow, D. et al. 2013. Lancet Oncology.]