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RB1 Deletion

Catalogue Numbers
LPS 011-S (5 tests)
LPS 011 (10 tests)

Probe Specification

  • RB1, 13q14.2, Red
  • 13qter, 13q34, Green

The RB1 Deletion probe consists of a 318kb red probe spanning the RB1 gene region. The 13qter probe in green acts as a control for chromosome 13.

Probe Information

Retinoblastoma (Rb) is a cancer of immature retina cells that occurs in infants and small children1.

The protein encoded by the 180kb Retinoblastoma 1 (RB1) tumour suppressor gene, located on 13q14.2, may form complexes with oncoproteins and block their tumourigenic activity2. Deletion of this gene, particularly homozygous deletion, is therefore a causal event in the development of retinoblastoma.

The RB1 gene also plays a role in secondary tumours arising in retinoblastoma patients, such as osteosarcoma and some soft tissue sarcomas3. The RB1 gene may also be deleted as a result of a progressional tumourigenic event in some leukaemias4, as well as in some breast, lung, bladder, oesophagus and prostate cancers5.

The quality of the products we have received from Cytocell have been excellent. The FISH probes they provide to us give intense, strong signals and are a pleasure to count. What has really stood out however has been the level of support and assistance provided by Cytocell’s application specialists. The team worked very closely alongside our own during the adoption of this product and spent many hours with us perfecting the technique, going above and beyond what I would expect during the transition period. Source BioScience absolutely demand high quality products and service to be able to deliver our results with confidence, and that is what we have received from Cytocell. Neil Ryan, Laboratory Operations Manager at Source BioScience


1. Heim and Mitelman, Cancer Cytogenetics 2nd Ed. 1995

2. Whyte et al., Nature 1988;334(6178):124-9

3. Draper et al., Br J Cancer 1986;53(5):661-71

4. Juneau et al., Cancer Genet Cytogenet. 1998 Jun;103(2):117-23

5. Benedict et al., J. clin. Invest., 85, 988–993 (1990)

Microscope Images

RB1 Deletion magnified
Area of Interest*
Breast Cancer, Retinoblastoma, Lung Cancer


This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples, or formalin-fixed paraffin-embedded (FFPE) tissues.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.