R14 FAQs

The R14 Rapid Genome Sequencing Service is a quick Whole Genome Sequencing test for acutely unwell children and some adults with a likely monogenic disorder, where rapid results are crucial for clinical care. Preliminary results are typically available within two weeks.

The most common method is a gene-agnostic trio analysis, which compares the patient's genome with their parents' genomes. This allows for the identification of a variety of inheritance patterns.

The test has a diagnostic yield of about 38-40% but may not detect certain conditions like methylation abnormalities or some structural rearrangements. Requests for the test must be supported by a Clinical Geneticist.

Relevant Forms and Leaflets:

• R14 Rapid WGS Request Form
• R14 Patient Information Leaflet
• Record of Discussion R14 Rapid WGS
• R387 Reanalysis Request Form (for R14)