Helping patients and families with rare diseases find answers

Whole genome analysis is simplifying diagnosis.

Advances in whole genome sequencing and analysis offer the opportunity to shorten the “diagnostic odyssey.” 

When you are searching for answers in genomics, hot spots, comprehensive panels and whole exome leave you with diagnostic blind spots.

Our analysis identifies key information from the genome including copy number variations, structural variants, fusion genes and mitochondrial variations. 

Utilizing whole genome data can nearly double the diagnostic rate (Mattick et. al. 10.5694/mja17.01176).

Available in Australia later in 2020.

Whole Genome Analysis

the norm, not the exception