RNA-Seq Based Diagnostic Test Enhances Diagnostic Accuracy of Pediatric Leukemia

Qlucore (Lund, Sweden) has launched the first CE-marked RNA-seq based diagnostic test for pediatric leukemia under Europe’s IVDR framework. Now available for clinical use, this test enhances diagnostic accuracy, enabling more personalized treatment and better outcomes for children with this common cancer. This unique and new test is set to reshape the way BCP-ALL samples can be analyzed. It includes both gene expression subtype classification of B-cell leukemias and gene fusion analysis support.

The regulatory approved test benefits from machine learning based subtype classification with enhanced subtype coverage and reduces the risk of escalated and expensive treatments. An additional 7% of samples are subtyped using gene expression profiles, enabling detection of DUX4-rearranged and ETV6::RUNX1-like subtypes. The BCP-ALL test simplifies lab work by utilizing standard wetlab and standard kits, while combining gene expression-based subtyping and gene fusions in one clinical report. The robust test utilizes up to three different gene fusion callers for improved coverage, and gene fusions are presented in Tiers including all detected fusions.

The cost-effective test can replace FISH tests with significant cost savings. Additionally, Whole Transcriptome Sequencing (WTS) allows all fusions to be clinically annotated, with future updates in software rather than in lab workflows. By integrating advanced genetic analysis with user-friendly software, the test empowers diagnostic laboratories and clinicians to make informed decisions for enhanced patient care.

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