Whole genome sequencing (WGS) analysis is phenotype driven and relies in the first instance on targeting genes specific to the phenotype. Please refer to PanelApp Australia for a comprehensive list of the pre-curated phenotype specific gene panels maintained by VCGS.
Analysis of WGS data includes the detection of deletions or duplications, also known as copy number variants (CNV).
We offer two test options:
- focused genome (1-400 genes)
- comprehensive genome (> 400 genes +/- Mendeliome)
Learn more about genomic sequencing for health professionals >