The IONA® test directly measures the change in the proportion of chromosome 21, 18 and 13 in maternal plasma samples using a whole genome, shotgun sequencing approach. This is achieved in just 3 days using the highly automated and validated IONA® test workflow to give the highest quality results with the lowest amount of hands-on time (HOT) possible. All steps from DNA extraction through to analysis are included, eliminating the need for lengthy validation and optimisation processes.
The IONA® test automated workflow
The IONA® Software for analysis
Premaitha has developed its own custom, dedicated bioinformatics analysis software as part of the IONA® test clinical workflow. The IONA® software employs highly efficient, multi-core analysis algorithms. It analyses the relative amount of chromosomes 21, 18 and 13 to calculate a risk score for the presence of a trisomy. This result is then further detailed by automatically combining it with the age-related risk of the mother at the time of sampling to calculate an adjusted probability of the fetus being affected. A results report is generated individually for each patient. The IONA® Software allows secure local data analysis, it is not cloud-based and no bioinformatics personnel are required: installation and training are provided by Premaitha.
Flexible and scalable IONA® workflow
The IONA® test has been validated on a highly flexible and scalable workflow, suitable for low to high volume sample throughput, enabling clinical laboratories to meet and grow with their rising demands. It is available as both an automated and manual workflow. Every IONA® test system comes with the fully validated and robust IONA® software for easy and automated results analysis.
Premaitha Workflow Manager
This is part of the IONA® automated workflow and is a custom, Laboratory Information System (LIS) for comprehensive clinical sample and patient data tracking from receipt to result. The Premaitha Workflow Manager interfaces with all instruments in the IONA® workflow, covering all stages: DNA extraction, library preparation, sequencing chip preparation, sequencing and analysis to produce the test result. This is the optimal paperless solution, minimising the need for labour-intensive manual tracking.
Quality control and Fetal Fraction
The IONA® test has been optimised to deliver the most accurate results while simultaneously keeping the number of sample failures due to low fetal fraction at a minimum. This is achieved by using a unique approach of two fetal fraction evaluations. All samples must have at least ≥2% fetal fraction. In addition, all samples at risk of a false negative or false positive result are evaluated using our proprietary dynamic fetal fraction assessment. This adapts the level of required fetal fraction for the sample to the quality of the sequencing data. Unlike other NIPT methods, the IONA® test has a very low re-draw rate of <0.5%.