Retinoblastoma is a malignant tumour that originates from embryonic retinal cells. It is the most common intra-ocular cancer of infants with a frequency of 1 in 18000 live births. Early genetic diagnosis and focal treatment, while lesions can still be ablated, is central to an effective management strategy. Inheritance of a mutation in one copy of the RB1 gene leads to a hereditary predisposition to retinoblastoma. Tumour development is initiated when a mutation of the second allele occurs. Somatic RB1 mutations in embryonal retinal tissue lead to non-hereditary unilateral retinoblastomas from a solitary focus. However, some unilateral tumours are the result of inherited mutations that confer risk to the affected individual with a risk of subsequent malignancy. Germline mutations generally result in bilateral disease and/or multiple tumours. There is a 3% risk of an associated intracranial retinoblastoma and a high risk (6-35%) of a second non-ocular malignancy later in life, especially when external beam radiotherapy is used for ocular treatment.
Genetics - Molecular Pathology
Patient specimen - EDTA blood, fresh tumour tissue
This test requires nucleated cells. Please do not centrifuge or freeze blood samples
Deliver same day or overnight courier, ambient
Ambient (8 - 24 degrees Celsius)
Coding regions of the 27 exons of the RB1 gene are analysed using an AmpliSeq-for_illumina custom panel on an Illumina MiSeq instrument. In some cases a pathogenic mutation is not detected by the sequencing analysis and further investigations are required - this may involved MLPA to screen for deletion mutations, methylation analysis, or sequencing of the mRNA transcript.
$761.05 (Exclusive of GST)
Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
For deletion/duplication analysis of this gene refer to MLPA Testing
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