Tests
We conduct a variety of genetic tests - please click here for details.
Our sensitivity for detection of unknown mutations is shown below, based on over 300 families analysed up to 27 September 2006. The data for unilateral patients with no family history has been compiled from those families where both tumour and blood samples were provided.
|
RB Type |
Tested |
Mutation Found |
Mutation in Blood |
Sensitivity |
|
Bilateral & Unilateral with positive family history |
206 |
197 |
196 |
95.6% |
|
Unilateral with no family history |
139 |
130 |
25 |
93.5% |
|
Total |
345 |
327 |
Overall Sensitivity |
94.8% |
Limitations of tests
The genetic screening provided is based on current knowledge of the RB1 gene, but the techniques used are not 100% sensitive and mutation(s) in any given sample could be missed. Therefore, when full mutation screening is negative, it does not mean that the sample is free of RB1 mutations. Furthermore, identification of a RB1 mutation in an individual does not exclude the remote possibility of the presence of a second unidentified RB1 mutation. It is possible for two relatives to have different RB1 mutations.
