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R14: Acutely unwell children with a likely monogenic disorder (rapid genome testing)

R14 is a rapid test of the whole genome. It is usually requested for children in neonatal or paediatric intensive care.

R21: Rapid prenatal exome sequencing

Rapid prenatal exome sequencing is undertaken for a nationally agreed panel of genes known to cause disorders that may present prenatally.

Whole genome sequencing

Whole genome sequencing refers to DNA sequencing of the entire genome, including both coding and non-coding regions.

Whole exome sequencing

Whole exome sequencing refers to DNA sequencing of all the genes in the human genome.