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Two recently published studies (Eid OM et al., 2021; Schwab CJ et al., 2021) highlight the role of MLPA in the analysis of haematological neoplasms. SALSA MLPA Probemixes P038 CLL-2, P335 ALL-IKZF1 and P327 iAMP21-ERG showed to be reliable tools for the investigators when used prior or complementary to fluorescent in situ hybridisation (FISH) or SNP arrays.
Using probemix P038 CLL-2, Eid OM et al. studied 30 cases of chronic lymphocytic leukemia (CLL) and found an 80% concordance with FISH for detection of key copy number alterations (CNAs): del13q14, trisomy 12, del11q and del17p13. However, in low-level mosaic cases MLPA analysis did not detect the CNAs. This is an expected result, as MLPA cannot reliably detect CNAs if the percentage of tumour cells is low.
Using probemixes P335 ALL-IKZF1 and P327 iAMP21-ERG, Schwab CJ et al. aimed to characterise distinct genetic subgroups of B-other-acute lymphoblastic leukaemia (B-other-ALL). The authors concluded that approximately 33% of B-other-ALL cases can be reliably classified using a combination of FISH and MLPA. Dual approaches are time-saving and cost-effective, particularly in settings when next-generation sequencing is not available.
These products are not for use in diagnostic procedures unless explicitly indicated otherwise in the relevant product documentation.