BSPGHAN Annual Meeting 2022

January 26-28th 2022
Registration Opening Soon

CLINICAL GENOMICS FOR THE DIAGNOSIS OF MONOGENIC FORMS OF INFLAMMATORY BOWEL DISEASE: THE 2020 ESPGHAN POSITION PAPER AND ITS IMPLICATIONS FOR UK SERVICE PROVISION IN 2021

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Christine Spray
Christine Spray
6 months ago

Thankyou for your poster. Could the authors explain what conditions are tested for on the targeted panel sequence. Can the authors advise if there is a more common cause of monogenic VEOIBD. What is the turnaround time for the genomics and cost. Can the author explain what conditions the TRIO sequencing from Exeter may pick up.

David Campbell
David Campbell
5 months ago

Thank you this is very helpful and important. This is a developing field that we are all having to get up to speed on. I wonder if a similar position or working group advice could be given for the children screened, for the indications given and found to be negative on the genomics R15 panel? Likewise the recommended functional tests of immunity if normal, do you see this as sufficiently reassuring or would you recommend further reviews by immunologists/specialists in EOIBD?
Perhaps the details of each case would guide the decision making?
Thank you.