Question 1

Purpose of the Test

Accepted Answer

Confirm clinical diagnosis of retinoblastoma Distinguish between hereditary and non-hereditary forms Enable early screening for siblings and close relatives

Question 2

Target Groups

Accepted Answer

Children newly diagnosed with retinoblastoma Individuals with a known family history of the disease Parents seeking to assess risk for future offspring

Question 3

Clinical Significance

Accepted Answer

Guides the frequency of ophthalmological monitoring Avoids unnecessary clinical exams for non-carrier relatives Assists in personalized treatment planning based on mutation type

Early Genetic Screening for Retinoblastoma - Retinoblastoma Genetic Sequencing (RB1 Gene)