Multiplexing of SMA, SCID and XLA screening can now be done in one assay utilizing Real-Time PCR technology, without increasing daily hands-on workload and complexity. This will provide a future-proof solution for cost-efficiently obtaining additional disorder information.
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Combination of DNA extraction, multiplexing and automation allows maximum efficiency in workflow. Analytes are quantified using innovative analysis method without calibrators, saving more room for your samples. For maximum flexibility and throughput, as well as for minimum hands-on time, liquid handling can be used both for DNA extraction and for PCR setup in the Eonis™ platform.
Punching
The 3.2 mm punches used in the Eonis SCID-SMA assay can be punched directly from a dried blood spot (DBS) specimen card to a DNA extraction plate with either the DBS or the panthera puncher.
DNA extraction
The Eonis DNA extraction kit provides an effective solution for extracting and purifying DNA from a DBS disk for molecular assays. This can be performed manually or automatically using a liquid handler such as Revvity JANUS®.
Amplification
Amplification reaction is set up with the reagents provided in the Eonis SCID-SMA kit.
Data analysis
Data analysis is performed with a dedicated Eonis analysis software.
Janus liquid handler can be used for automatic pipetting while extracting DNA from DBS. The samples are handled with Janus extraction instrument that can process four 96-well plates simultaneously while Janus mini extraction is designed for smaller and medium throughput labs with one plate extraction at time.
For customers running PCR with 384-well format, mastermix setup is automated with the Janus PCR mastermix instrument. This enables minimal manual intervention in the workflow.
Three analytes (TREC, KREC, SMN1 exon 7) and an internal amplification control (RPP30) is detected simultaneously by an RT-qPCR instrument with target sequence-specific primers and probes containing different fluorescent dyes.
QuantStudio Dx instrument supports running PCR in 96-well or 384-well mode depending on the instrument configuration.
Newborn screening software that provides control and monitoring tools for the entire screening process.
Specimen Gate software is designed to simplify the data collection and workflow processes
involved with receiving specimens, screening for abnormalities, managing patient information, generating specimen reports, and following up abnormal and unsatisfactory specimens.
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