Massively parallel sequencing is a term used to describe modern high-throughput sequencing techniques that read the sequence of millions of short fragments of DNA or RNA at the same time.

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

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

If an ultrasound investigation reveals a fetal anomaly, it may be because of a chromosomal error. In these situations, a fetal chromosomal microarray should be considered.

Next-generation sequencing is the name of a group of technologies that have transformed the speed and cost of DNA sequencing, revolutionising its clinical and research applications.

Sanger sequencing is a fast, cost-effective way of reading the sequence of small targeted regions of the genome. It is widely used to test for known familial variants, to validate results obtained through massively parallel sequencing and for some single gene sequencing assays.

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

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