Research & Diagnostics
Molecular analysis of mutations and structural variations (SVs) is essential for diagnosis, prognosis and therapy decisions for leukaemia.
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, the latter have limitations in detection of cryptic fusions and fusion partners, and do not adequately address the huge variety of gene fusions that can cause leukaemia. TLA enables targeted, complete sequencing of relevant loci to detect all mutations and gene fusions.
Testing for minimal residual disease (MRD) is routine for paediatric leukaemia 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 leukaemia are known to be cancer-driving, clonal events, these breakpoint sequences are ideal markers for sensitive and quantitative MRD testing with PCR.
- Application notes
- Application note on the application of TLA in gene fusion detection in pediatric leukaemia
- Application note on MRD testing using TLA data
Alimohamed MZ et al. (2018)
Cergentis & University of Groningen
Boer JM et al. (2016)
COALL, DCOG, Erasmus Medical Center, Princess Maxima Center for Pediatric Oncology, Radboud University Medical Center & University of Amsterdam
Splinter E et al. (Poster - 2016)
Cergentis, DCOG, Erasmus Medical Center, Princess Maxima Center for Pediatric Oncology & Radboud University Medical Center
Kuiper RP et al. (2015)
Cergentis, DCOG, Erasmus Medical Center, Radboud University Medical Center
Vroegindeweij EM et al. (2015)
Cergentis, Erasmus Medical Center, Ghent University, KU Leuven & Princess Maxima Center for Pediatric Oncology
TLA technology & targeted complete NGS of genes and gene fusions in leukaemia