Services
Disease Diagnostics

Disease
Diagnostics

Providing answers for genetic and rare disease
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Who can order our tests?

Our tests can be ordered by a clinical geneticist or by medical specialists supported by a clinical geneticist or a genetic health professional. For clinicians not familiar with genomic testing, Genome.One can assist in providing referring to a suitable genetic health professional.

What is required to order our tests?

The order checklist provides a guide to what is required for ordering our tests:

Patient (and their family, where appropriate) has participated in genetic counselling.
Obtain informed consent from patient for genomic testing.
For private patients: inform patient of costs associated with the test.
Order the test online. (Please contact us if you require a printable request form)
Provide a copy of the completed Request Form (generated during the order process) to your patient and instruct them to visit a blood collection centre to have their sample taken.

What are the specimen collection and transport requirements for a sample?

We accept EDTA Blood or DNA for tests. Specimen requirements are summarised here.

When can I expect the results?

Depending on the test ordered, it can take between 8 to 12 weeks for the results to be generated starting from when all samples have been received by the laboratory and all necessary documentation and payment requirements have been completed. Panel testing is generally faster than whole genome testing because of the lesser volume of data and analysis that needs to be considered.

How do clinicians receive their patient’s results?

We will keep you up to date with email notifications as your order progresses. The final report will be provided to you by email with an encrypted attachment.

Our clinical staff will be happy to provide consultation and assistance in interpreting the results of genomic testing.

What will be included in the report?

Our diagnostics report includes medical findings of proven scientific value. We follow Australian and international standards as to which genomic results should be included, and which results have not yet met the threshold of required evidence.

Does Genome.One report incidental findings?

We do not routinely include a search for Incidental Findings (IF) or Secondary Findings in genes unrelated to the primary purpose of diagnostic referral. When WGS is performed, our analysis is focused on searching for variants that are relevant to the indications for testing. However, during whole genome analysis of the primary condition, finding incidental (or secondary) variants unrelated to the primary condition in question will always be a possibility. In this case, clinically significant variants will be reported in accordance with the patient’s wishes as recorded in the genomic consent form signed by the patient. The chance of identifying an incidental finding unrelated to the primary diagnosis depends on the scope of genomic analysis. This probability could be 1–5% in WGS where the whole genome is analysed*. Restricting analysis to only a panel of genes extracted from WGS reduces the chance of identifying an incidental finding.

* data on file

Does Genome.One report Variants of Uncertain Significance (VUS)?

VUS may be included in genomic reports for diagnostic testing of a suspected condition and the pre-test probability of that condition is high. VUS results are NOT routinely included in genomic screening in the absence of a relevant clinical or family history, as the pre-test probability of a given condition is relatively much lower.

We encourage referring clinicians to talk to the Genome.One clinical team if a different approach for VUS inclusion in the patient’s report is preferred.

What if I don't get a diagnosis the first time?

The world of genomics is constantly evolving, with new discoveries and knowledge generated each day. That’s why when the genome is sequenced with Genome.One, the genomic data is securely stored for the period required by law and generally accepted pathology practice – ready to be reanalysed and reinterpreted based on new information without the need to generate the data again. Further analysis requires a referral from the referring clinician.

If you are considering a reanalysis of the data, please contact us or your referring clinician. Additional fees may apply.

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Choose the whole genome or a panel of specific genes.
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