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SALSA MLPA Probemix P437 Familial MDS-AML

Myelodysplastic syndrome/Acute myeloid leukemia, familial (Familial MDS-AML)

Region: RUNX1 21q22.12; CEBPA 19q13.11; GATA2 3q21.3; TERT 5p15.33; TERC 3q26.2

General information
The SALSA MLPA Probemix P437 Familial MDS-AML is a research use only (RUO) assay for the detection of deletions or duplications in the GATA2 (3q21.3), TERC (3q26.2), TERT (5p15.33), CEBPA (19q13.11) and RUNX1 (21q22.12) genes, which are suggested to be of diagnostic relevance in familial MDS/AML. This probemix can also be used to detect the presence of three mutations, namely, the GATA2 p.R398W (c.1192C>T), GATA2 p.T354M (c.1061C>T) and TERT p.A1062T (c.3184G>A).

While the majority of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) cases are sporadic, familial MDS/AML cases have also been identified and reported in literature. Inherited mutations in the GATA2, TERC, TERT, CEBPA and RUNX1 genes have been shown to associate with familial MDS/AML (for review see Holme et al. 2012). Although most of the germline aberrations in these genes are point mutations, deletions have been described as well, e.g. in the GATA2 and RUNX1 genes (Hsu et al. 2011, Kazenwadel et al. 2012, and Liew & Owen 2011). The most recurrent GATA2 mutations identified in MonoMAC patients are p.R398W (c.1192C>T) and p.T354M (c.1061C>T) (Hsu et al. 2011). Furthermore, in the TERT gene the p.A1062T (c.3184G>A) mutation is shown to be a negative prognostic factor in younger AML patients (Both et al. 2017).

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P478-B1 Familial MDS-AML contains 59 MLPA probes with amplification products between 124 and 505 nucleotides (nt). This includes 42 probes for the genes GATA2, TECR, TERT, CEPBA and RUNX1. Furthermore, this probemix also contains 3 probes specific for the GATA2 p.R398W, GATA2 p.T354M and TERT p.A1062T point mutations which will only generate a signal when the mutation is present. In addition, 14 reference probes are included that target relatively copy number stable regions in various cancer types including familial MDS-AML. Complete probe sequences and the identity of the genes detected by the reference probes are available in Table 2b of the Product Description and online (

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at

SALSA Binning DNA SD070
The SD070 Binning DNA provided with this probemix can be used for binning of all probes including the three mutation-specific probes: GATA2 probe 19052-SP0847-L24939 (p.R398W = c.1192C>T) at 168 nt, GATA2 probe 19053-SP0738-L25512 (p.T354M = c.1061C>T) at 190 nt and TERT probe 19697-SP0859-L30075 (p.A1062T = c.3184G>A) at 200 nt. SD070 Binning DNA is a mixture of genomic DNA from healthy individuals and synthetic DNA that contains the target sequence detected by the above mentioned probes. Inclusion of one reaction with 5 μl SD070 Binning DNA in initial MLPA experiments is essential as it can be used to aid in data binning of the peak pattern using Coffalyser.Net software.

Furthermore, Binning DNA should be included in the experiment whenever changes have been applied to the set-up of the capillary electrophoresis device (e.g. when capillaries have been renewed). Binning DNA should never be used as a reference sample in the MLPA data analysis, neither should it be used in quantification of mutation signal(s). It is strongly advised that all samples tested are extracted with the same method and derived from the same source of tissue. For further details, please consult the SD070 Binning DNA product description, available online: This product is for research use only (RUO).

Sample DNA
Sample DNA developed for this product:

Order Items


Item no.
SALSA MLPA Probemix P437 Familial MDS-AML – 25 rxn
€ 281.00
SALSA MLPA Probemix P437 Familial MDS-AML – 50 rxn
€ 550.00
SALSA MLPA Probemix P437 Familial MDS-AML – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

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