Rapid exome service

The rapid exome sequencing service is reserved for acutely unwell children with a likely monogenic disorder. This service is provided by the network of Genomic Laboratory Hubs (GLHs) as part of the Genomic Medicine Service (GMS).

Clinical indications for testing are listed in the National Genomic Test Directory under 'R14 Acutely unwell children with a likely monogenic disorder' in the rare and inherited disease eligibility criteria document.  

For urgent referrals, the on-call consultant clinical geneticist can be reached on 023 8120 6170 (Monday to Friday, 9am to 4pm). The rapid exome service pathway and clinicians' guide detail further information on the referral process. Please read these documents before contacting the genetics service.

A list of additional documents which are described in the rapid exome service pathway document can be found below:

For any general enquiries relating to this service, please contact Dr David Hunt on 023 8120 6170.

The current consent and confidentiality in genomic medicine guidance is a helpful document for all clinicians involved in discussing genomic tests with patients and families.