Transforming patient care through genomics across South London and Kent, Surrey and Sussex
Supporting the implementation of personalised medicine
One of the largest providers of genomic testing in the UK and a national centre for specialist testing for cardiology, gastro-hepatology, haematology, neurology, respiratory and skin conditions.
Providing clinical and scientific leadership to enable all staff across the NHS to use genomics safely, effectively and efficiently.
Embedding genomics into mainstream clinical care
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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