Change to WGS report formats for Rare Disease duo/trio referrals

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Change to WGS report formats for Rare Disease duo/trio referrals

Change to WGS report formats for Rare Disease duo/trio referrals

Update

Change to WGS report formats for Rare Disease duo/trio referrals

As of May 2022, please note that for Rare Disease Whole Genome Sequencing (WGS) the NHS North Thames Rare Disease Laboratory at Great Ormond Street Hospital will no longer routinely issue separate reports for the parents in trio/duo referrals where there is no primary finding in the proband. A report will be issued for the proband as usual.

May 5, 2022

The laboratory will generate separate reports for parents where there is a finding in the proband that presents a significant recurrence risk to offspring or other family members. The process for requesting WGS and submitting samples remains the same, and more information can be found on our Ordering Whole Genome Sequencing page.

If you have any questions about this change, please contact our designated WGS address: gos-tr.wgsnorththamesglh@nhs.net