Retinoblastoma, RB1
Analysis ID 226
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Retinoblastoma, RB1
OMIM +180200
Clinical information Retinoblastoma (RB) is an embryonic malignant neoplasm of the retina. It almost always occurs in early childhood and often is bilateral. Spontaneous regression of the tumor in sporadic cases has been noted. The retinoblastoma gene (RB1) was the first tumor suppressor gene to be cloned. It acts as a negative regulator of the cell cycle through its ability to bind the transcription factor E2F and repress the transcription of genes required for S phase.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes RB1
Analysis description Analysis consists of identification of microdeletions in the 13q14 region with use of MLPA method
Analysis indication Retinoblastoma
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for Molecular Genetics and Oncology