Disease Diagnostics


Providing answers for genetic and rare disease
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Specimen requirements

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

whole blood
Minimum Volume
6 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
100 µL high-quality genomic DNA with a concentration of 10-100 ng/µL
Storage and shipping
Room temperature or refrigerated (2-6 ˚C)

Shipment address

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 contact us directly.

Turn-around time

It takes approximately 8 to 12 weeks* from receipt of a sample to complete the sequencing, analyses and interpretation required to issue a genomic pathology report.

*Turnaround time (“TAT”) starts when the laboratory has received all samples and all necessary documentation and payment requirements have been completed. Specimens with urgent priority may be able to be expedited where indicated by the requesting clinician: please contact us for further details.

Confirmatory testing

We normally perform confirmatory testing for all clinically significant variants using Sanger sequencing (or other clinically appropriate orthogonal confirmation techniques).

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