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Rare Disease - Urgent Testing

Information about Urgent and Semi-Rapid Rare Disease genomic testing

Information about Urgent and Semi-Rapid Rare Disease genomic testing

The East GLH laboratories aim to report all genomic tests within the NHS England reporting time guidelines

Urgent Testing

Urgent Rare Disease genomic tests are delivered by the National Genomics Medicine Service for prenatal testing and specific postnatal Clinical Indications, for example - R14 Acutely unwell children with a likely monogenic disorder. We understand that other genomic tests may be considered urgent.

The East GLH will prioritise genomic testing in the following circumstances:

  • Diagnostic tests in infants less than 6 months old
  • Diagnostic tests for children with deteriorating or progressive disease
  • Diagnostic tests for children where their mother is pregnant and a result will impact on management of the pregnancy
  • Diagnostic tests where a result will have an impact on planned surgery
  • Any test, diagnostic or predictive, where a result will provide an immediate change to urgent treatment and/or clinical management of a patient

If your patient meets one or several of these criteria, please indicate on your test order form that urgent testing is required and provide the reasoning. The NHSE WGS test order forms and the East GLH Rare Disease test order forms have been amended to include a space for users to provide a reason for urgency.

Any test orders marked as urgent that do not provide a reason will not be prioritised for testing.

To request urgent testing outside the circumstances listed above, or to expedite testing that has already been ordered, please contact your local genomics laboratory at Cambridge, Leicester or Nottingham (https://www.eastgenomics.nhs.uk/about-us/genomic-laboratory-hub/contact-details/).

Semi-Rapid testing

The Rare and Inherited Disease Genomic Test Directory includes four clinical indications that are usually delivered using trio whole genome sequencing (WGS). In specific circumstances these can be delivered as a singleton whole exome virtual gene panel test to provide a Semi-Rapid turnaround time. These four clinical indications available as Semi-Rapid services are listed in the table below.

Clinical Indication ID Clinical Indication
R15 Clinical Indication Primary immunodeficiency or monogenic inflammatory bowel disease
R98 Clinical Indication Likely inborn error of metabolism
R135 Clinical Indication Paediatric or syndromic cardiomyopathy
R257 Clinical Indication Unexplained young onset end-stage renal disease

Details of the eligibility criteria for Semi-Rapid testing are listed in the National Genomic Test Directory eligibility criteria. If your patient is eligible for Semi-Rapid testing, you can find information on how to request and order testing in the document linked below.

Please review this information and the NHSE published documents to ensure you are aware of any updates that may affect your practice.