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SALSA MLPA Probemix P414 MDS

Myelodysplastic syndrome (MDS)

Region: various

MLPA | Improved
General information: The SALSA MLPA Probemix P414 MDS is a research use only (RUO) assay for the detection of deletions or duplications in the different chromosomal regions that are suggested to be of diagnostic or prognostic relevance in myelodysplastic syndromes (MDS) and are used in the revised International Prognostic Scoring System (IPSS-R) for myelodysplastic syndromes: chromosome 3, 5q (EGR1, MIR145, SPARC, MIR146A), 7q (EZH2), 8q (MYC), 11q (KMT2A), 12p (ETV6), chromosome 17 (TP53, NF1, SUZ12), chromosome 19, 20q (ASXL1) and Y-chromosome. This probemix can also be used to detect the presence of JAK2 p.V617F (c.1849G>T) point mutation.

Myelodysplastic syndromes are a heterogeneous collection of hematologic disorders, which are characterized by dysplastic hematopoietic differentiation. In 30% of all cases, MDS progresses to acute myeloid leukemia (AML). There are several oncogenes and tumour suppressor genes, which are either altered in their copy number or mutated in MDS. The purpose of this probemix is to detect the majority of these clinically and prognostically important changes.

Probemix content: The SALSA MLPA Probemix P414-C1 MDS contains 58 MLPA probes with amplification products between 118 and 496 nucleotides (nt). This includes 46 probes for the following chromosomal regions: chromosome 3, 5q (EGR1, MIR145, SPARC, MIR146A) (+one flanking probe at 5p), 7q (EZH2) (+one flanking probe at 7p), 8q (MYC) (+one flanking probe at 8p), 11q (KMT2A), 12p (ETV6), chromosome 17 (TP53, NF1, SUZ12), chromosome 19, 20q (ASXL1) and Y-chromosome. Furthermore, this probemix also contains one probe specific for the JAK2 p.V617F mutation which will only generate a signal when the mutation is present. In addition, 12 reference probes are included that target relatively copy number stable regions in various cancer types including MDS. Complete probe sequences are available online (www.mlpa.com) and the identity of the genes detected by the reference probes is available in Table 2b.

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 www.mlpa.com.

SALSA Binning DNA SD029: The SD029 Binning DNA provided with this probemix can be used for binning of JAK2 p.V617F (c.1849G>T) mutation-specific probe (JAK2 probe 05672-L17742). SD029 Binning DNA is a mixture of genomic DNA from healthy individuals and plasmid DNA that contains the target sequence detected by the above mentioned probe. Inclusion of one reaction with 5 μl SD029 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, as for this purpose true mutation/SNP positive patient samples or cell lines should be used. 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 SD029 Binning DNA product description, available online: www.mlpa.com.

Sample DNA
Sample DNA developed for this product:

Order Items

Probemix

Item no.
Description
Technology
Price
P414-025R
SALSA MLPA Probemix P414 MDS – 25 rxn
€ 243.00
P414-050R
SALSA MLPA Probemix P414 MDS – 50 rxn
€ 486.00
P414-100R
SALSA MLPA Probemix P414 MDS – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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SALSA MLPA Probemix P335 ALL-IKZF1

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