The EONIS system, a screening assay capable of simultaneously testing newborns for three genetic conditions, including spinal muscular atrophy (SMA), has received a CE marking from the European Commission for an in vitro device.
The approval will allow its developer, PerkinElmer, to make the EONIS device available throughout the European Union, as the CE certification is a requirement for marketing products throughout the continent.
“The global availability of this CE-marked assay for SMA, SCID and XLA will have a profound impact,” said Petra Furu, PhD, general manager of reproductive health at PerkinElmer, in a press release. “It will help save lives and dramatically improve clinical outcomes for children by ensuring treatment can be given earlier to those who need it.”
SMA, SCID, and XLA can be fatal if not detected early in infancy. This makes the screening process for these conditions essential so that patients can receive the care they need as soon as possible.
The EONIS test uses a laboratory technique called real time polymerase chain reaction (RT-PCR), which enables researchers to identify mutations in specific gene regions.
The RT-PCR process begins with researchers collecting a blood sample from a patient. Cells are collected from the blood sample, and the blood is dropped onto filter paper and subsequently dried for further use.
This method of patient sample collection is called dried blood spot (DBS). It is advantageous, as a DBS specimen card is stable and transportable.
The next step of the process is called punching, in which the spots blotted onto the paper are removed and prepared for further examination. Specific tools, such as PerkinElmer’s Panthera Puncher, are specifically designed to optimize this step.
Following the punching, the cells within the blood sample are broken down through the use of laboratory reagents, allowing researchers to extract the subject’s DNA for further analysis.
Once the DNA is extracted, the gene regions of interest are amplified using PCR, a widely used laboratory technique that can produce millions or billions of copies of a DNA sequence.
This amplification process allows the DNA to be readily detected and analyzed. The EONIS system is designed to multiplex results, or analyze several genes simultaneously.
Furthermore, the system is able to integrate with other PerkinElmer laboratory equipment, including the JANUS Liquid Handler, which is designed to automate the preparation of solutions and reagents to save time and resources.
The JANUS device is also capable of performing steps in the EONIS process automatically, including the DNA extraction.
“The integration of this assay with our complete workflow solution is a prime example of how PerkinElmer is providing laboratories with the innovative tools needed to run a reliable, and yet, cost-effective screening program,” Furu said.
The CE-IVD approval will allow PerkinElmer to advance this technology throughout the EU. The approval also allows the company to integrate its test for SMA, SCID, and XLA with other genetic screening tests.
The full PerkinElmer genetic screening portfolio includes the detection of more than 50 conditions, each of which has shown that early detection and diagnosis can lead to improvements in patient outcomes.
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