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P496 KMT2A

SALSA MLPA Probemix P496 KMT2A detects copy number variations in the KMTA gene and other regions associated with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

Specifications

Contents: 60 MLPA probes, including 17 probes for KMT2A, 2 probes for UBE4A, 2 probes for TMEM25, 2 probes each for CTNNA1 and NPM1 (5q), 2 probes each for IKZF1, CUX1, KMT2E and EZH2 (7 p/q), 3 probes for ATM (11q), 3 probes for TP53 (17p), 2 probes for NF1 and 1 probe for SUZ12 (17q), and a probe for ASXL1 c.1934dupG.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P056 TP53

This probemix contains 15 probes for the detection of TP53 CNAs and TP53 flanking regions.

P202 IKZF1-ERG

This probemix contains 21 probes for IKZF1 copy number determination.

P335 ALL-IKZF1

This probemix contains eight probes targeting IKZF1.

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General information

The SALSA MLPA Probemix P496 KMT2A is a research use only (RUO) assay for the detection of deletions or duplications in the KMT2A gene. This probemix can also be used to detect the presence of the ASXL1 c.1934dupG mutation.

The histone methyltransferase KMT2A methylates lysine 3 on histone 4 (H3K4), thereby shaping the epigenetic landscape in cells, modulating chromatin accessibility and transcription. A subset of leukemias is characterised by KMT2A alterations, which typically include amplifications, partial tandem duplications (PTDs) and translocations (Rao et al. 2015). KMT2A alterations are observed in 5-20% of Acute Myeloid Leukemia (AML) cases, and are associated with poor outcome (Choi et al. 2018; Issa et al. 2021; Yuen et al. 2023). KMT2A PTDs (also known as MLL PTDs) are observed in 6-7% of Myelodysplastic Syndrome (MDS) as well, and alongside TP53 and FLT3 mutations are considered as top genetic predictors of adverse outcomes according to IPSS-M (Molecular International Prognostic Scoring System for Myelodysplastic Syndromes) (Bernard E et al. 2022; Choi et al. 2018). Accurate detection of KMT2A PTDs using next-generation sequencing (NGS) or fluorescence in situ hybridisation (FISH) approaches remains difficult (McKerrell et al. 2016; Afrin et al. 2018; Dai et al. 2021; Tsai et al. 2022), whereas MLPA technique was shown to yield robust and reliable results with a short turnaround time (Balgobind et al. 2010; Kentaro et al. 2013) and allows more accurate detection of KMT2A PTDs when combined with DNA structural analysis approaches (Capo-Chichi et al. 2022).

ASXL1 is a gene that is frequently mutated in various haematological malignancies, including AML and MDS. The most common genetic alteration found in the ASXL1 gene is the c.1934dupG mutation, which leads to a premature stop codon in the ASXL1 transcript, resulting in a truncated ASXL1 protein which is rapidly degraded. Importantly, loss-of-function ASXL1 mutations were shown to promote myeloid transformation through loss of PRC2-mediated gene repression (Abdel-Wahab et al. 2012; Gelsi-Boyer et al. 2012). The ASXL1 c.1934dupG mutation appears to be mostly restricted to the haematopoietic lineage, and is associated with poor prognosis in AML and MDS patients (Gelsi-Boyer et al. 2012).

Regulatory status

SALSA MLPA Probemix P496 KMT2A is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD096 is an artificial DNA sample with a signal for all probes in the P496 KMT2A probemix. Inclusion of a reaction with SD096 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD096 is included with every order of the P496 KMT2A probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P496-025R
SALSA MLPA Probemix P496 KMT2A – 25 rxn
MLPA
€ 286.00
P496-050R
SALSA MLPA Probemix P496 KMT2A – 50 rxn
MLPA
€ 560.00
P496-100R
SALSA MLPA Probemix P496 KMT2A – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD096
SALSA Binning DNA SD096 – 6 rxn
MLPA
€ 24.15

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

See this support article for commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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