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The R14 test is a rapid whole genome sequencing (WGS) service provided by the NHS in England. It is specifically designed for acutely unwell children who are suspected of having a monogenic disorder, where a swift genetic diagnosis could significantly impact immediate clinical management. (R14: Acutely unwell children with a likely monogenic disorder (rapid ..., R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory)
🧬 Purpose of the R14 Test
The R14 test aims to identify genetic causes in critically ill children, particularly those in neonatal or paediatric intensive care units (NICU/PICU). Conditions that may warrant this test include: (R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory)
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Severe epilepsy or epileptic encephalopathy
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Neonatal-onset epilepsy
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Progressive neuromuscular disorders
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Acute developmental regression
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Acute neurodegeneration
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Features suggestive of a metabolic disorder
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Suspected genetic syndromes (R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory, R14: Acutely unwell children with a likely monogenic disorder (rapid ...)
The test is intended for cases where a genetic diagnosis is likely to lead to immediate changes in clinical management or therapeutic interventions. (R14: Acutely unwell children with a likely monogenic disorder (rapid ...)
🕒 Turnaround Time
The Exeter Genomics Laboratory, which conducts the R14 test, aims to deliver preliminary results within two weeks of receiving the samples. (R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory)
📋 Eligibility Criteria
To be eligible for the R14 test, patients must meet the following criteria:
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Be acutely unwell
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Have a likely monogenic disorder
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A genetic diagnosis is expected to imminently alter management (Presentation: Child acutely unwell in NICU or PICU — In the Clinic, [PDF] National Genomic Test Directory - NHS England)
This test is typically requested after consultation with a clinical geneticist or another relevant subspecialist. ([PDF] National Genomic Test Directory - NHS England)
🧾 Requesting the Test
Healthcare professionals can request the R14 test by completing the appropriate forms and submitting them to the Exeter Genomics Laboratory. Detailed guidance on the referral process and eligibility criteria is available through the National Genomic Test Directory. (R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory, [PDF] National Genomic Test Directory - NHS England)
If you need further information or assistance regarding the R14 test, please feel free to ask.
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