Retinoblastoma test kit

oncologyfor RB1 gene mutationsblood

Identify genetic predispositions fast Retinoblastoma (RB) is a cancer that originates in the retina and affects young children in one (unilateral, ~60%) or both (bilateral, ~40%) eyes. It is mostly caused by RB1 gene mutations and the RB1 mutation can be inherited from one parent (~10%). Individuals that inherit RB1 mutation on one copy of the RB1 gene is predisposed to RB and other cancers later in the life when the second RB1 gene is also damaged in the tumor. The majority of RB (~90%) develops spontaneously pre-conception or during early development of the fetus and is not heritable to future offspring. Therefore, RB1 genetic testing is critical for RB patients to assess the likelihood of developing additional tumors in the eye, to monitor the spread of cancer and improve surveillance and treatment of family members.   Analyzes mutations in 27 exons, splicing sites flanking the exons and key promoter region of RB1 gene at germline, somatic and mosaic level  Detects whole gene or exon-level copy number variation (CNV) of RB1 gene  Optional validation test for family members of proband  WHO IS IT FOR Patients with unilateral or bilateral RB  Parents of RB patients with confirmed RB1 mutation   Individuals with one or more immediate family members with RB  SAMPLE TYPES Tumor tissue (FFPE block/slides, or frozen tissue) Peripheral blood