The complete genomic information within a sample or individual is known as the whole genome. The exome is a region of the genome – making up approximately 2%. The exome is responsible for protein-coding regions, and although it is a relatively small part of the genome, it contains the majority (~85%) of known disease-causing changes.

A genome represents a patient’s complete set of DNA. By examining the genome, you can capture one of the most extensive ranges of genetic variants in a single test – solving up to 30% of negative cases that just look at the exome.

Inherited metabolic disorders (IMDs) are a group of rare conditions caused by genetic defects that disrupt the cellular metabolism.

A growing number of IMDs are treatable if diagnosed early, but can be quickly fatal without prompt identification. With a multiomic approach that incorporates biochemical testing, you can accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years amid often rapid IMD progression.

Biochemical testing examines the enzymes in the body to detect if there are any abnormalities. These abnormalities may be reflected by functioning improperly or being absent or unstable. Biochemical testing is especially used to detect altered enzyme activity to detect birth defects and Inherited Metabolic Disorders (IMDs). With the metabolism being responsible for converting food into energy and waste, enzymes play a key role.

With biochemical testing, you can accelerate the path to a precise diagnosis by avoiding stepwise testing.