Services
Disease Diagnostics

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
Pharmacogenomics
Sample requirements
Price: panel analysis
Price: all gene analysis
WGS
8-12 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 $2,400
High sensitivity whole genome analysis for $3,200
WES
8-12 weeks
Whole blood 5 mL adults; 2 mL paediatrics or DNA 100 μL at 10-80ng/μL
WES-based panels from $1,400
Whole exome analysis for $2,200

Diagnosis Rate for difficult cases

Microarray
Variable
Single Gene / Panel Tests
Variable
Whole Exome Sequencing
20-30%
Genome.One
40-60%

Exome Wide Analysis Coverage

Microarray
Single Gene / Panel Tests
Whole Exome Sequencing
Genome.One

Coverage of non-coding clinical SNVs

Microarray
Single Gene / Panel Tests
Whole Exome Sequencing
Genome.One

Interpretation of SNV compound heterozygotes

Microarray
Single Gene / Panel Tests
Whole Exome Sequencing
Genome.One

Copy Number Variation (CNV) resolution

Microarray
Low
Single Gene / Panel Tests
N/A
Whole Exome Sequencing
N/A
Genome.One
High

Future use of data

Microarray
Low
Single Gene / Panel Tests
Low
Whole Exome Sequencing
Medium
Genome.One
High

Panel Analysis

Polycystic kidney disease (PKD) 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:

ACMG59 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. 1

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
Highest Quality Technical Standards

We run all testing in our own laboratory, which is accredited for diagnostic medical testing (NATA accreditation - accredited for compliance with NPAAC Standards and ISO 15189; NATA/RCPA Accreditation Number: 19887).

Latest Updates

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Choose the whole genome or a panel of specific genes.
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