Disease Diagnostics


Providing answers for genetic and rare disease
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All our diagnostic tests are based on the underlying technology of whole genome sequencing. WGS gives extraordinary flexibility to tailor clinical analysis to the needs and intention of the patient and the requirements of the referring clinician. Depending on the medical history and the specific needs and intention of the patient, the analysis and interpretation can either be performed on the data from the whole genome or can be restricted to data from a selected panel of genes.

Whole Genome Analysis

Analysing the entire genome can potentially provide a greater chance of a diagnosis. For many genetic conditions, the greatest chance of diagnosis will occur if samples from multiple family members are included in the analysis. A “trio” (i.e. three key members of the same family) is considerably more powerful in achieving a genomic diagnosis than is a “singleton” (i.e. only the affected member of the family). A genetic health professional may be able to advise whether a singleton or a trio analysis is indicated. Where the referring clinician is unsure, Genome.One can assist in providing or recommending referral to a suitable genetic health professional.

A whole genome analysis is recommended for patients with a broad differential diagnosis or patients for whom other tests have not resulted in a definitive diagnosis.

Panel Analysis

Analysing a panel of genes focuses the search on a subset of the data generated through whole genome sequencing. This reduces the time and technical analysis required and therefore lowers the cost of the test. In addition, focusing only on panels of genes decreases the chance of discovery of additional or incidental findings unrelated to the condition being investigated, which may complicate result interpretation and be inconsistent with the expressed needs and wishes of the patient.

A panel analysis is recommended when there is a specific clinical diagnosis being considered and a genomic result is being used to confirm or exclude the diagnosis of the condition. Clinicians are able to select the most appropriate analysis in collaboration with our experts and based on the patient's needs.

Why generate sequencing data from whole genome if only part of it is analysed?

  • Because our panel analysis is based on whole genome sequencing technology we can detect small nucleotide variants (SNPs) and deletions/insertions (indels) in one test. This removes the need for several separate or additional tests such as microarrays, which are potentially also required when ordering traditional gene panel tests.
  • Because our panel tests are flexible, this allow the clinician to start with a narrow and focussed panel, but to be able to broaden the scope of the initial analysis if the search was not successful. In this way, the chance of a diagnosis is maximised without the need or cost of repeated separate panel tests, and the chance of discovering secondary or incidental findings is decreased.
  • Because our panels are updated on a regular basis to account for new discoveries, this allows the clinician to have confidence that they have the most up-to-date panel available for their patient’s data. Unlike traditional panels, we are not “locked in” to a panel that may become out-of-date with discovery of an additional relevant gene. A patient’s genomic data can also be reanalysed in the future if new discoveries emerge. The patient does not need to provide another sample. Further analysis requires a referral from the requesting clinician and additional charges may apply.
Highest Quality Technical Standards

We run all WGS testing in our own laboratory, which is accredited for diagnostic Medical Testing

  • First and only accredited whole genome sequencing capability in Australia
  • NATA accreditation – Accredited for compliance with NPAAC Standards and ISO 15189; NATA/RCPA Accreditation Number: 19887

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Choose the whole genome or a panel of specific genes.
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