Services
Disease Diagnostics

Disease
Diagnostics

Providing answers for genetic and rare disease
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Genomic testing may identify the gene variant(s) that causes a genetic condition. This diagnosis can confirm the patient’s condition, and can help with prognosis and management.

We use whole genome sequencing (WGS) to produce information across the genome for analysis and clinical interpretation. We can tailor the scope of the analysis and interpretation either to the complete genome or to a panel of specific genes based on a clinical assessment and to meet the needs, and expressed intention of the individual patient.

Why should you use whole genome sequencing?

Previously, diagnosing genetic disorders commonly relied on a range of consecutive genetic tests, performed in series, one after the other. This meant that finding definitive answers could take an extended period of time.

With clinical WGS, we use a different approach, which can potentially increase the speed and likelihood of a successful diagnosis.

Benefits for patients

  • Confidence and reliability - Extensive and reliable examination of genomic information provides increased likelihood of a diagnosis to help proactively manage a range of genetic conditions
  • Faster diagnosis - Analysing the whole genome in a single test can potentially lead to a faster diagnosis of a genetic condition compared to the previous standard of performing a range of single tests in series
  • Potential cost savings - The cost of performing WGS may be more cost effective than performing multiple single gene tests or panel tests in series
  • Family care - For some conditions, knowing about genetic variants can help cascade testing and screening of family members to diagnose those at risk of the condition before symptoms develop
  • Future analysis - Once sequenced and securely stored, a patient’s genome can be reanalysed and reinterpreted as new discoveries are made worldwide and as knowledge grows*
* Reanalysis and reinterpretation is only undertaken on specific request from a patient’s treating doctor. Additional fees may apply for reanalysis and reinterpretation.

Benefits for doctors

  • Consistent coverage - A consistent coverage of 30X over 96.6% of protein-coding bases significantly increases chances to identify pathogenic genetic variations. WGS delivers a 20–30% higher diagnostic rate than most gene panels or WES
  • Confidence - Demonstrated accuracy** in detecting genetic variations provides increased trust and confidence in diagnosis
  • Convenience - WGS can identify genetic variations at high resolution in a single test
** 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).
Exome-wide analysis coverage
Diagnosis rate for difficult cases
Coverage of non-coding clinical SNVs
Interpretation of SNV compound heterozygotes
Future use of data
Microarray
Variable
Low
Single Gene /
Panel Tests
Variable
Low
Whole Exome
Sequencing
20-30%***
Medium-high
Genome.One
40-60%****
High

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
*** data on file
**** data on file

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Choose the whole genome or a panel of specific genes.
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