Disease Diagnostics


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

Genome.One only accepts orders from medical specialists with genetics expertise. Clinicians wanting to order a test can do so by completing the online or printable test request form. Patients are required to have had genetic counselling or review by a genetic health professional before genomic testing can be performed.

If your patient would like to be referred to a genetics service through the public health system, a list of services across Australia and New Zealand is available here.

Patients also have the option to be referred to a genetic health professional through the Genome.One Clinical Service

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 using our online or printable test request forms
Provide a copy of the completed request form 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?

Genome.One accepts EDTA Blood or DNA for clinical WGS and WES. Specimen requirements are summarised in the table below.

whole blood
Minimum Volume
5 mL for adults and 2 mL for paediatrics
Collection tube
Storage and shipping
Room temperature or refrigerated. DO NOT FREEZE.  Sample must arrive at Genome.One within 3 days of collection
Minimum Volume
Whole Genome Sequencing: 100 µL high-quality genomic DNA with a concentration of 10-100 ng/µL
Whole Exome Sequencing: 100 µL high quality genomic DNA with a concentration of 10-80 ng/µL
Storage and shipping
Room temperature or refrigerated (2-6 ˚C)

Where should samples be shipped to?

Central Specimen Reception (CSR), SydPath
St Vincent's Hospital 
Xavier Building, Level 6 
390 Victoria St
Phone: +61 (0) 2 8382 9100

For international customers, please use the files below for sample logistics:

How are results confirmed?

We perform confirmatory testing for all clinically significant variants using Sanger sequencing or MLPA.

Does Genome.One report incidental findings?

Genome.One uses an opt-in approach to determine patient consent for incidental findings.

An incidental finding is defined by Genome.One as:

  • A variant in a gene NOT relevant to the phenotype of the patient; and
  • A Class 4 or 5 variant in ClinVar in a gene described as medically actionable; the ACMG59 (Kalia et al. 2017) where review by Genome.One is in agreement with their likely pathogenic classifications, and where variant zygosity fits the known inheritance pattern for the disorder.

If a patient has not opted in, then no incidental findings will be reported, and the report will explicitly state that incidental findings (including ACMG59) have not been actively examined.

In the rare event incidental findings outside the ACMG59 (or any incidental findings in a patient under the age of 16 years) are identified they will be managed on a case-by- case discussion between the laboratory and referring clinician, with the option of a multidisciplinary team meeting.

Can referring clinicians receive a copy of a patient’s genomic data?

Adult patients can request a copy of their own, or their child’s, whole genome data to be sent to themselves or to their doctor. For more information about how to request your patient’s data files, please email

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