SALSA MLPA P437 Familial MDS-AML probemix

application: Familial MDS-AML
region: RUNX1, CEBPA, GATA2, TERT, TERC
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version: B1
sold since: 2017-07-07

item no. description price
P437-025R SALSA MLPA P437 Familial MDS-AML probemix – 25 rxn € 237
P437-050R SALSA MLPA P437 Familial MDS-AML probemix – 50 rxn € 474
P437-100R SALSA MLPA P437 Familial MDS-AML probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
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 H et al. 2012, Br J Haematol. 158:242-8). 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 AP et al. 2011, Blood. 118:2653-5, Kazenwadel J et al. 2012, Blood. 119:1283-91, and Liew E and Owen C 2011, Haematologica. 96:1536-42). The most recurrent GATA2 mutations identified in MonoMAC patients are p.R398W (c.1192C>T) and p.T354M (c.1061C>T) (Hsu AP et al. 2011, Blood. 118:2653-5). 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 A et al. 2017, Ann Hematol. doi: 10.1007/s00277-017-2967-0).

This P437-B1 Familial MDS-AML probemix contains in total 42 probes for detection of copy number aberrations in the following genes: GATA2 (at 3q21.3), TERC (at 3q26.2), TERT (at 5p15.33), CEBPA (at 19q13.11) and RUNX1 (at 21q22.12), which are suggested to be of diagnostic relevance in familial MDS/AML. Furthermore, this probemix contains three mutation-specific probes for the GATA2 p.R398W, GATA2 p.T354M and TERT p.A1062T point mutations. In addition, 14 reference probes have been included in this probemix, detecting 13 different autosomal chromosomal locations, which are relatively stable in MDS and AML patient samples.

SD070 Binning DNA
Please note that the mutation-specific probes have only been tested on control plasmids and not on positive human DNA samples with the GATA2 (p.R398W = c.1192C>T and p.T354M = c.1061C>T) and TERT (p.A1062T = c.3184G>A) point mutations! This SD070 Binning DNA is provided with each probemix vial and can be used in data binning in the fragment analysis and as a positive control for the mutation-specific probes.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes and to detect the presence of the aforementioned point mutations in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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 and duplications 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. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in these genes are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

related products
SALSA MLPA P257 TERT-DKC1 probemix
Contains other probes for the TERT and TERC genes.
SALSA MLPA P327 iAMP21-ERG probemix
Contains probes for the RUNX1 gene and its flanking regions.
SALSA MLPA P373 Microdeletion syndromes 7 probemix
Contains six probes for the TERT gene.

product history
version B1: As compared to the A1 version, a new mutation specific probe for TERT is included, five target probes are replaced, one new reference probe is included, six reference probes are replaced and several probes are adjusted in length.
version A1: changes not specified

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