We use whole genome sequencing (WGS) and whole exome sequencing (WES) to capture information across the genome for analysis and clinical interpretation. We can tailor the scope of the analysis and interpretation either to all genes with variants known to be associated with disease, or a panel of specific genes, to meet the needs of the individual patient.
Our PKD panel is focused on the most common form of PKD, autosomal dominant polycystic kidney disease (ADPKD). The panel includes PKD1, PKD2 and additional genes associated with conditions presenting with macro renal cysts.
Customising a gene panel gives greater flexibility and control over the scope of the analysis Genome.One can provide. It can also be useful for clinicians wanting analysis of genes that are not included in our standard product panels. Genome.One offers the option for you to build custom panels of any number of genes, allowing analyses to be as targeted or as broad as requested.
If a pathogenic variant is not found in a panel analysis, Genome.One offers the option to expand testing to all genes. Please contact us for more information, including costs.
Analysing the whole genome or exome, rather than a panel of genes, can potentially provide a greater chance of a diagnosis. This is recommended for patients with a broad differential diagnosis or patients for whom other tests have not resulted in a definitive diagnosis. For many genetic conditions, a diagnosis is most likely to occur if samples from multiple family members are included in the analysis. A trio (samples from the patient plus two relatives) is considerably more powerful in achieving a genomic diagnosis than a singleton (sample from the patient only).
A secondary analysis includes genes outside of the primary purpose of the test. Genome.One offers secondary analyses of:
This includes pathogenic and likely pathogenic variants for the 59 medically actionable genes that are recommended for return as secondary findings by the American College of Medical Genetics and Genomics. 1
Genome.One offers pharmacogenomics testing to provide insights into how a
person’s genes may affect their response to medications.
Depending on what genetic variants are present, a person may metabolise a particular medication too slowly or too quickly. Poor metabolism of a medication can result in adverse reactions, while rapid metabolism of a medication means it may not be as effective. Information from pharmacogenomics testing can help with making more informed prescription decisions, such as:
Our pharmacogenomics analysis includes common prescription and over-the-
counter medications, and can be useful for anyone already undergoing
Specific groups of people who may benefit most from pharmacogenomics include those who:
The test covers more than 220 medications across a number of classes, including:
We run all testing in our own laboratory, which is accredited for diagnostic medical testing (NATA accreditation - accredited for compliance with NPAAC Standards and ISO 15189; NATA/RCPA Accreditation Number: 19887).