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How is genetic testing used to diagnose retinoblastoma?

Dr. Jeanne Morrison, PhD
Family Practitioner

Genetic testing can help diagnose retinoblastoma fairly conclusively, since mutations in the two alleles of the RB1 gene are a clear indicator. This kind of testing can be particularly helpful if retinoblastoma is in the family. If a child has retinoblastoma in both eyes, it mean that the mutated RB1 gene is present in all their cells. In this case, there is no need for genetic testing. If the retinoblastoma is in only one eye, the child could have it in the DNA of every cell or only in some. The other children in the household should be genetically tested if one child has the gene.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.