Genetic and Genomic Testing Pipeline

This website will provide an overview of the genetic and genomic test process, from identifying patients and selecting tests, through to reporting results, post-test counselling and further testing.

The terms genetics and genomics are often used interchangeably, however, they are different. Genetic tests usually look at just a single gene while we define genomic testing as tests that sequence the genome or the exome (the part of the DNA that codes for proteins). Our ability to look at the entire genome comes via next generation sequencing (NGS) technology. This technology is changing the conventionally slow, ‘serial’ test process of diagnosing Mendelian disorders.