Disease Diagnostics


Providing answers for genetic and rare disease
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Ordering test

A clinician orders the test online or by a printable test request form. Optionally, if the treating clinician is not familiar with genomic testing, they can refer the patient to a genetic health professional. Genome.One has genetic health professionals available who can assist. 

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Genomic consent

The patient and genetic health professional meet and discuss the process and implications of genomic testing. Download a copy of our patient consent form:

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Sample Collection

The patient takes their completed request form to any pathology collection centre to get his or her blood taken.

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

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Sequencing the genome

After the patient’s DNA is extracted from the blood sample, we sequence that patient’s exome or whole genome using advanced sequencing technology.

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Analysing and interpreting the data

Once sequencing is complete, our team of experts analyse and interpret the resulting genomic information, using an award-winning bioinformatics pipeline*, to identify clinically significant variants.

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Reporting results

Our team of highly skilled specialists will review clinically significant variants and generate a report outlining the findings of our analysis. We encrypt and deliver the report to the requesting clinician.

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Discussing results with the patient

The referring clinician, genetic health professional and patient meet to discuss the results and implications of the test.

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Storing data

We securely store the patient’s genetic data so that it can be reanalysed and reinterpreted in the future. Patients have the opportunity to have their data reanalysed and reinterpreted (upon request from referring clinician**):

  • for the same indication, if no diagnosis was identified on the initial test;

  • for new, emerging or unrelated indications;

  • in the light of new knowledge.

* Our analysis pipeline won an award in the precisionFDA Truth Challenge in 2016 for the highest SNP precision. Genome.One tests and services are not approved for sale, and are not endorsed or recommended by the United States Food and Drug Administration (FDA).
** Additional fees may apply

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Choose the whole genome or a panel of specific genes.
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