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.
The order checklist provides a guide to what is required for ordering our tests:
Genome.One accepts EDTA Blood or DNA for clinical WGS and WES. Specimen requirements are summarised in the table below.
Central Specimen Reception (CSR), SydPath
St Vincent's Hospital
Xavier Building, Level 6
390 Victoria St
DARLINGHURST NSW 2010
Phone: +61 (0) 2 8382 9100
We perform confirmatory testing for all clinically significant variants using Sanger sequencing or MLPA.
Genome.One uses an opt-in approach to determine patient consent for
An incidental finding is defined by Genome.One as:
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.
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 firstname.lastname@example.org