The P377-A3 MLPA probemix is intended for screening DNA samples derived from blood or bone marrow for the most common and diagnostically significant copy number changes associated with hematologic malignancies, including acute lymphoblastic leukaemia (ALL), acute myeloid leukaemia (AML), chronic lymphoid leukaemia (CLL), chronic myeloid leukaemia (CML), myelodysplastic syndrome (MDS) and various lymphomas. This probemix is intended to be used in combination with karyotype analysis. Suggestions on MLPA probemixes that can be used to confirm results or to get a better resolution on genes or chromosomal areas of interest can be found in Table 2 of the product description.
This P377-A3 probemix contains probes for several genes and chromosomal regions known to have a significant diagnostic or prognostic role in hematologic malignancies: 2p (MYCN, ALK), 5q (MIR145, EBF1 and MIR146A), 6q, 7p12 (IKZF1), 7q, 8q24 (MYC), 9p (MTAP, CDKN2A, CDKN2B, PAX5), 10q23 (PTEN), 11q22 (ATM), 12p13 (ETV6, CCND2, MDM2), 12q, 13q14 (RB1, MIR15A, DLEU2, DLEU1), 17p13 (TP53), 17q, Chr 18 and Chr 19, 21q22 (RUNX1). Furthermore, this probemix contains a mutation-specific probe for detection of the JAK2 V617F mutation.
SALSA Binning DNA SD068
Please note that the mutation-specific probe has only been tested on synthetic DNA and not on positive human DNA samples with the specific JAK2 V617F mutation! This SD068 sample DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as an artificial positive control for the mutation-specific JAK2 probe (see next page).
This SALSA® MLPA® probemix is designed to detect copy number changes of one or more sequences in the above mentioned genes and chromosomal regions and to detect the presence of the aforementioned point mutation (JAK2 V617F) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions, duplications and amplifications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.
Sample DNA
Sample DNA developed for this product: