Genetic Retinoblastoma (RB1 Deletion) DNA Test


Genetic Retinoblastoma (RB1 Deletion) DNA Test

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Retinoblastoma (RB) is a malignant tumor originating in the retinal cell precursors and can be presented as a unilateral or bilateral form in childhood. Development of this tumor is caused by mutations in the RB1 gene on chromosome.The hereditary form of RB is transmitted with a high penetrance to offspring.

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The first mutation may occur in the germ line or in somatic cells. The hereditary form of RB is transmitted with a high penetrance to offspring . Because early diagnosis is necessary for implementing effective treatment and preserving vision, it is important to identify the mutations in the affected family. Constitutional RB1 gene gross deletions with bilateral or unilateral familial RB by a segregation assay of four intragenic polymorphisms located in introns of the RB1 gene, along with fluorescence in situ hibridization analysis.