Disease Diagnostics


Providing answers for genetic and rare disease
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We use whole genome sequencing (WGS) and whole exome sequencing (WES) to capture information across the genome for analysis and clinical interpretation. We can tailor the scope of the analysis and interpretation either to all genes with variants known to be associated with disease, or a panel of specific genes, to meet the needs of the individual patient.

Estimated turnaround time
SNPs and indels
Detection of splice sites
Detection of CNVs
Variant detection in non-coding regions
Sample requirements
Price: panel analysis
panels from $1,600-$2,100
Price: all gene analysis
analysis for $2,600
8-16 weeks*
Available as add-on (see below)
Whole blood; 5 mL adults; 2 mL paediatrics or DNA 100 μL at 10-100ng/μL
High sensitivity panel
analysis from $2,500-$3,000
High sensitivity whole
genome analysis for
8-16 weeks*
Whole blood 5 mL adults; 2 mL paediatrics or DNA 100 μL at 10-80ng/μL
WES-based panels
from $1,600-$2,100
Whole exome analysis
for $2,600
* Turnaround time varies with analytical complexity, findings and current demand. While a typical result takes 8-12 weeks, complex findings (which may require additional confirmatory testing and supplementary analysis) might require up to six months. For clinically urgent samples, please consult the laboratory: these can sometimes be expedited and reported in <6 weeks. 

Diagnosis Rate for difficult cases

Single Gene / Panel Tests
Whole Exome Sequencing

Exome Wide Analysis Coverage

Single Gene / Panel Tests
Whole Exome Sequencing

Coverage of non-coding clinical SNVs

Single Gene / Panel Tests
Whole Exome Sequencing

Interpretation of SNV compound heterozygotes

Single Gene / Panel Tests
Whole Exome Sequencing

Copy Number Variation (CNV) resolution

Single Gene / Panel Tests
Whole Exome Sequencing

Future use of data

Single Gene / Panel Tests
Whole Exome Sequencing

Panel Analysis

Polycystic kidney disease (PKDv2) panel (only available with WGS)

Our PKD panel is focused on the most common form of PKD, autosomal dominant polycystic kidney disease (ADPKD). The panel includes PKD1, PKD2 and additional genes associated with conditions presenting with macro renal cysts.

Cardiac panels

We offer a portfolio of panels for patients with suspected genetic cardiac conditions, including disease-specific tests as well as broader panels for cardiomyopathies, arrhythmias, aortopathies and RASopathies.

Create your own panel

Customising a gene panel gives greater flexibility and control over the scope of the analysis Genome.One can provide. It can also be useful for clinicians wanting analysis of genes that are not included in our standard product panels. Genome.One offers the option for you to build custom panels of any number of genes, allowing analyses to be as targeted or as broad as requested.

Reflex analysis

If a pathogenic variant is not found in a panel analysis, Genome.One offers the option to expand testing to all genes. Please contact us for more information, including costs.

All Gene Analysis

Analysing the whole genome or exome, rather than a panel of genes, can potentially provide a greater chance of a diagnosis. This is recommended for patients with a broad differential diagnosis or patients for whom other tests have not resulted in a definitive diagnosis. For many genetic conditions, a diagnosis is most likely to occur if samples from multiple family members are included in the analysis. A trio (samples from the patient plus two relatives) is considerably more powerful in achieving a genomic diagnosis than a singleton (sample from the patient only).

Find out more:

Secondary analysis

A secondary analysis includes genes outside of the primary purpose of the test. Genome.One offers secondary analyses of:

A.C.M.G.Actionable Findings genes ($400)

This includes pathogenic and likely pathogenic variants for the 59 medically actionable genes that are recommended for return as secondary findings by the American College of Medical Genetics and Genomics.

Pharmacogenomics analysis ($400, only available with WGS)

Genome.One offers pharmacogenomics testing to provide insights into how a person’s genes may affect their response to medications.

Depending on what genetic variants are present, a person may metabolise a particular medication too slowly or too quickly. Poor metabolism of a medication can result in adverse reactions, while rapid metabolism of a medication means it may not be as effective. Information from pharmacogenomics testing can help with making more informed prescription decisions, such as:

  • Avoiding unintended drug interactions
  • Pre-emptively adjusting prescriptions to limit adverse reactions
  • Considering alternative agents for known poor metabolisers

Who is this test appropriate for?

Our pharmacogenomics analysis includes common prescription and over-the- counter medications, and can be useful for anyone already undergoing genetic testing.

Specific groups of people who may benefit most from pharmacogenomics include those who:

  • Are taking a medication in a class covered by the test
  • Have experienced serious adverse effects from a medication
  • Are currently prescribed multiple medications

What medication classes are included?

The test covers more than 220 medications across a number of classes, including:

  • Allergy
  • Analgesics
  • Anticoagulants/antiplatelets
  • Cardiovascular
  • Dietary
  • Endocrinology
  • Gastroenterology
  • Genetic disease
  • Immunosuppression
  • Infectious disease
  • Neurology
  • Oncology
  • Psychiatry
  • Pulmonary
  • Rheumatology
  • Sleep Medicine
  • Urology

For a full list of medications covered by the test, click here.

Highest Quality Technical Standards

We run all testing inour own laboratory, which is accredited for diagnostic medical testing (NATAaccreditation - accredited for compliance with NPAAC Standards and ISO 15189;
NATA/RCPA Accreditation Number: 3427).

Latest Updates

New tool to detect structural variants enhances value of whole genome sequencing
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New diagnostic test for PKD − another example of WGS changing medicine
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New precision cancer medicine project for Genome.One and Garvan
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Choose the whole genome or a panel of specific genes.
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