Test Sensitivity
At Retinoblastoma Solutions we regularly calculate our sensitivity for the different categories of samples we receive.
In patients who are bilaterally affected, or unilaterally with family history, we expect
to find one mutation in the blood sample.
For patients with sporadic unilateral disease, we expect to find two mutations in the tumor sample.
Blood from sporadic unilateral cases is expected to show one mutation in approximately 14% of cases.
When no viable tumor sample is available for unilaterally affected individuals,
our lab will analyze blood samples without tumor for RB1 mutations. Contact
us for more details.
Our lab's test sensitivity, based on over 1000 families analyzed to date (January 2012):
