SALSA MLPA Probemix P335 ALL-IKZF1 is an in vitro diagnostic (IVD)1 or a research use only (RUO) semiquantitative assay2 for the detection of deletions of the IKZF1 gene for stratification of patients with acute lymphoblastic leukemia (ALL) into prognostic subgroups. The SALSA MLPA Probemix P335 ALL-IKZF1 is a RUO assay2 for the detection of deletions or duplications in B-cell differentiation and cell cycle control genes (EBF1, CDKN2A/B, PAX5, ETV6, BTG1 and RB1) and in the PAR1 region.

This assay is for use on genomic DNA isolated from human peripheral whole blood and bone marrow specimens. Copy number alterations (CNAs) detected with P335 ALL-IKZF1 should be confirmed with a different technique. In particular, CNAs detected by only a single probe always require confirmation by another method. In the majority of patients, defects in the IKZF1 gene are deletions, but point mutations can occur which will not be detected by MLPA. It is therefore recommended to use this assay in combination with sequence analysis of the IKZF1 gene.