Qlucore newsletter: Hospital case study implementing RNA-seq based diagnostics

2024-06-12

The team at Rigshospitalet in Denmark has implemented the use of Qlucore Insights for in-house use, in accordance with Article 5(5) in EU IVDR, and included it in the RNA lab workflow. As data input whole RNA sequencing data (WTS) from diagnostic ALL samples are used.

The Qlucore Insights software, which is intended for research use only, has been validated for in-house use by the team, by comparing the results of RNA sequencing with standard methods such as G-band karyotyping, FISH, SNP array and RT-PCR. Forty-six B-ALL samples and 8 T-ALL samples from the biobank have been tested. Based on the validation results, RNA sequencing data analysis using Qlucore Insights is now incorporated as a routine diagnostic tool.

ALL

A great advantage of the Qlucore Insights software is that it not only reports all fusion genes, but based on gene expression profiles provides information about common, rare and new subtypes of B-ALL. The included subtypes are high hyperdiploidy, BCR::ABL or BCR::ABL like, DUX4 rearranged, ETV6::RUNX1 or ETV6::RUNX1 like, KMT2A rearranged, and TCF3::PBX1. See figure below.

The validation has been successful and the introduction in routine in-house diagnostics at Rigshospitalet has worked very well.

“One thing that really stands out is the combination of a gene expression subtype classifier and the detection of gene fusions,.” says Mette K. Andersen (MD, PhD), is a clinical geneticist at the Department of Clinical Genetics at Rigshospitalet, Denmark.

The case study is available here.

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