RB1 Gene Analysis (Germline)

Retinoblastoma is caused by heterozygous mutations in the RB1 genes. Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases.

The RB1 gene is responsible for encoding the retinoblastoma protein, which regulates cell division and prevents tumor formation. Germline RB1 gene analysis involves the identification of mutations or deletions in the RB1 gene, enabling early detection and genetic counseling for affected individuals and their families. Malignancies in RB1 gene which is studied via NGS, to detect pathogenic variants within RB1 and distinguish between benign polymorphisms. Accurate identification of RB1 gene alterations helps determine the risk of developing retinoblastoma and guides treatment decisions, such as prophylactic removal of the unaffected eye or surveillance for tumor development. Early detection and intervention based on RB1 gene analysis provide essential insights for effective management and improved outcomes in individuals at risk for hereditary retinoblastoma.

Note: Genetic counseling can be provided. If interested, please send the request to this email id:[email protected]