SALSA MLPA Probemix P202 IKZF1-ERG detects copy number variations in the IKZF1 (7p12.2), ERG (21q22.2) and CDKN2A/2B (9p21.3) genes, and in the 14q32.33 chromosomal region.
Contents: 59 MLPA probes, including 21 probes for the IKZF1 region, 13 probes for the ERG region, 3 probes for the CDKN2A/2B region and 4 probes for the 14q32.33 region.
Tissue: human genomic DNA, including DNA from bone marrow.
Application: research on acute lymphoblastic leukemia (ALL).
For research use only (RUO). Not for use in diagnostics.
SALSA MLPA Probemix P202 IKZF1-ERG is a research use only (RUO) assay for the detection of deletions or duplications in the IKZF1 (7p12.2) and ERG (21q22.2) genes, which are frequently altered in acute lymphoblastic leukemia (ALL). In addition, this probemix can be used to determine the copy number of the CDKN2A/2B genes (9p21.3) and the 14q32.33 chromosomal region, recurrently altered in ALL.
Partial or complete deletions of the IKZF1 (also known as IKAROS) gene are detected in ALL, especially in cases that also carry the BCR-ABL1 gene fusion (Philadelphia chromosome). In ALL, IKZF1 deletions have been associated with relapse and poor clinical outcome (Mullighan et al. 2009, Martinelli et al. 2009, and Iacobucci et al. 2009). Partial or complete gene deletions of IKZF1 are detected in ~80% of paediatric and 60-90% of adult BCR-ABL1 positive ALL cases. Partial gene deletions of IKZF1 frequently affect exons 4-7, but smaller intragenic deletions, down to single exon deletions, have been reported and have been suggested to be associated with unfavourable prognosis in paediatric B-cell precursor (BCP) ALL (Boer et al. 2016).
Short intragenic deletions of ERG have been described in BCP-ALL patients and have been shown to be associated with good outcome. Moreover, ERG deletion is suggested to define a subgroup of superior outcome among patients with IKZF1 deletions (Clappier et al. 2014 and Zaliova et al. 2014).
In chronic-phase chronic myeloid leukemia (CML), IKZF1 copy number changes are rare. However, in CML-blast crisis, deletions of IKZF1 are more frequent (25-66%) and might therefore have a role in CML transformation from chronic phase to blast crisis (Alpár et al. 2012).
In common variable immunodeficiency (CVID) disorder, characterized by late-onset hypogammaglobulinemia and a poor antibody response to infectious and vaccine antigens, families with germline heterozygous IKZF1 deletions have been detected (Kuehn et al. 2016).
SALSA MLPA Probemix P202 IKZF1-ERG is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
The commercially available positive samples below can be used with the current (C2) version of this product.