Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication

Also known as: RB1 NGS

Clinical Use

Use

This test is recommended for individuals with a suspected diagnosis or family history of heritable retinoblastoma. Hereditary retinoblastoma is a malignant tumor of the retina caused by a single germline pathogenic variant in the RB1 gene, predisposing individuals to retinoblastoma and other nonocular tumors, including pinealoblastoma, osteosarcoma, soft tissue sarcoma, and melanoma. Early diagnosis through genetic testing assists in medical screening, management, and identifying at-risk family members.

Special Instructions

Not provided.

Limitations

The test detects variants within the coding regions and intron-exon boundaries of the RB1 gene, but deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Regulatory region and deep intronic variants will not be identified. Precise breakpoints for large deletions or duplications are undetermined, and single exon deletions/duplications may not be detected based on the rearrangement breakpoints. Diagnostic errors may occur due to rare sequence variations, pseudogenes, repetitive, or homologous regions. The test does not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions. Noncoding transcripts were not analyzed, and certain exons may have reduced sequencing sensitivity.

Test Details