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In hereditary retinoblastoma, mutations in the RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to increase the risk of cancer.
A malignant retinal tumour known as retinoblastoma typically affects children under the age of five. A single germline pathogenic variant the RB1 gene that causes hereditary retinoblastoma predisposes people to the disease as well as other non-ocular tumours including pineoblastoma, osteosarcoma, soft tissue sarcoma, and melanoma.
Diagnosis of retinal retinoblastoma bilateral and unilateral involvement (unifocal and multifocal)
a history of retinoblastoma in the family
It is not advised for those who have had an allogeneic bone marrow transplant or a hematologic malignancy to submit a peripheral blood sample for molecular genetic testing.
To properly understand test results, cultivated fibroblasts must be tested.
Test Type | Retinoblastoma - Gene Sequencing |
Includes | Retinoblastoma - Gene Sequencing (Pathology Test) |
Preparation | |
Reporting | Within 24 hours* |
Test Price |
₹ 23887
|
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