Important change to R216 - Li Fraumeni Syndrome testing
Dear Colleagues
This communication is to update you around important changes to testing patients for the Clinical Indication R216 Li Fraumeni Syndrome.
Patients eligible for testing using the R216 Li Fraumeni Syndrome clinical indication will now be tested for both the TP53 and the POT1 gene according to the Test Directory:
https://nhsgms-panelapp.genomicsengland.co.uk/panels/1222/v1.0 (opens in a new tab)
The East GLH team will no longer perform TP53 gene testing alongside Inherited Cancer Clinical Indications.
From the 1st December 2023, all requests for R216 Li Fraumeni Syndrome will be sent for testing and reporting by the designated specialist laboratory in the North East and Yorkshire GLH.
Any questions, please email the Cambridge Laboratory - cuh.geneticslaboratories@nhs.net.