Whole Genome Sequencing
Your patient may be eligible for Whole Genome Sequencing (WGS) which will require a separate form. This WGS testing will be performed in parallel to other routine genomic tests that are part of standard care.
Your patient may be eligible for Whole Genome Sequencing (WGS) which will require a separate form. This WGS testing will be performed in parallel to other routine genomic tests that are part of standard care.
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We are still working on this page of the website and will launch soon.
In the meantime, if you would like to request cancer whole genome sequencing for a phase 1 or 2 clinical indication please use the Cancer WGS Test Order Form. The eligible indications can be found in the National Genomic Test Directory.
Please get in touch if you have any questions.
To improve the diagnostic potential of Whole Genome Sequencing, we are introducing the following change:
Carrying out Whole Genome Sequencing as a trio with the parents of the affected child increases diagnostic rate and accuracy, reduces the chance of an inconclusive result and reduces the turnaround time. As a result, singleton referrals where the proband is under 16 will now be put on pause until Records of Discussion and samples are obtained from parents. The exception to this is R193 Cystic Kidney Disease, or cases where a coroner is involved.
If it is not possible to obtain a sample and ROD from the parents, please do let us know and the referral can be processed as a duo (if only one parent sample can be obtained) / singleton. Please note that parents do not need to be affected, as testing unaffected parents may still increase the diagnostic rate and accuracy for the affected child.
Please note, completing the referral form electronically would reduce discrepancies and any delays in testing