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In genetic screening, half of the top ten clinically relevant genes are considered hard-to-decipher due to complex genetic structures, such as large repeats, copy number variations or rearrangements. These variants cannot be fully analysed with a single methodology and often require a complex algorithm for accurate analysis.
As a result, many laboratories must rely on multiple methods to cover these genes. For example, testing for genes such as FMR1, SMN1/2, HBA1/2 and CYP21A2 often requires techniques such as fragment analysis by capillary electrophoresis, qPCR, MLPA or even Sanger sequencing. Supporting these highly differentiated workflows in parallel is challenging, leading to gaps in testing capabilities and inefficiencies in laboratory operations.
To explore this challenge, we developed a comprehensive assay with consolidated workflow and high-value content improving genetic coverage of hard-to-decipher genes using our proprietary AmplideX® PCR enrichment technology combined with nanopore sequencing. This approach enables streamlined testing with the potential to impact a wide range of laboratories, from mid-sized diagnostic labs to large carrier screening facilities.
Leveraging the capabilities of long-read sequencing and our expertise in characterising challenging genetic targets, the AmplideX® Nanopore Carrier Plus Kit* integrates an end-to-end solution with an intuitive push-button software, allowing rapid result interpretation without requiring in-house bioinformatics expertise. The AmplideX One Reporter software simplifies data analysis and reporting, including customised visuals for each variant type to assist genotype interpretation.
Watch our ESHG 2025 satellite workshop where we explore how this innovative approach enhances genetic testing efficiency, improves laboratory workflows, and expands access to challenging genetic content.
*For research use only. Not for use in diagnostic procedures.
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