Research & Diagnostics

Molecular analysis of mutations and structural variations (SVs) is essential for diagnosis, prognosis and therapy decisions for leukemia.

NGS is increasingly the method of choice for the detection of small mutations such as SNVs. For SVs such as gene fusions, cytogenetic methods such as karyotyping and FISH are often used. However, these have limitations in detection of cryptic fusions and fusion partners, and do not adequately address the huge variety of gene fusions that can cause leukemia. TLA enables targeted, complete sequencing of relevant loci to detect all mutations and gene fusions.


Testing for minimal residual disease (MRD) is routine for pediatric leukemia patients and is starting to be used more frequently in adults. TLA uniquely enables detection of gene fusion breakpoint sequences at nucleotide resolution. Since gene fusions in leukemia are known to be cancer-driving, clonal events, these breakpoint sequences are ideal markers for sensitive and quantitative MRD testing with PCR.





Whole genome coverage plot generated on leukaemia samples using a primer pair specific for the MLL gene (indicated with the position of the blue arrow). Identified gene fusions are indicated with an arrow. This image is generated on a sample with MLL specific primers at either end of the gene. Results show that a balanced MLLT4/MLL translocation has occurred and that the healthy allele has been deleted.
Whole genome coverage plot and identified gene fusions generated with multiplex TLA analyses of the RUNX1, MLL, TCF3, IKZF1, CRLF2, JAK2, CSF1R, ABL1 & PDGFRB genes in patient samples.
An ALL patient was monitored using an IGH rearrangement (blue) and a TCRD (red) rearrangement as well as the junction region of a CRLF2 deletion (green). The quantitative ranges were 5x10-4 (TCRD) and 1x10-4 (IGH and CRLF2), whereas the sensitivities were 10-4 (CRLF2) and 10-5 (TCRD and IGH). The IGH and TCRD rearrangements and CRLF2 deletion junction gave highly comparable MRD data. Relapse refers to an extramedullary relapse.
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