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.