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P414 MDS

SALSA MLPA Probemix P414 MDS detects copy number variations in various chromosomal regions with relevance in myelodysplastic syndromes (MDS).

Specifications

Contents: 46 MLPA probes, including for chromosome 3 (MLH1, GATA2, MECOM), 5q (APC, EGR1, MIR145, RPS14, SPARC, MIR146A), 7q (CDK6, SAMD9L, EPO, KMT2E, MET, EZH2), 8q (FGFR1, NCOA2, RUNX1T1, MYC, PTK2), 11q (KMT2A, TIRAP, ETS1), 12p (ETV6, CDKN1B), chromosome 17 (TP53, NF1, SUZ12, AATF), chromosome 19 (SMARCA4, PRPF31), 20q (ASXL1, SRC, HNF4A, ZMYND8) and the Y-chromosome (ZFY), and a probe for JAK2 p.V617F.

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

Application: research on myelodysplastic syndromes (MDS).

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

General information

The SALSA MLPA Probemix P414 MDS is a research use only (RUO) assay for the detection of deletions or duplications in different chromosomal regions described to be of potential diagnostic or prognostic relevance in myelodysplastic syndromes (MDS), and are used in the International Prognostic Scoring System–Revised (IPSS-R) and Molecular International Prognostic Scoring System for Myelodysplastic Syndromes (IPSS-M) (Bernard E et al. 2022): 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 the 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, that have mutations or copy number alterations (CNAs) in MDS (Ogawa S. 2019), many of which can be detected with this P414 probemix.

Regulatory status

SALSA MLPA Probemix P414 MDS is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD029 is an artificial DNA sample with a signal for all probes in the P414 MDS probemix. Inclusion of a reaction with SD029 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 SD029 is included with every order of the P414 MDS probemix, but it is possible to order additional vials separately.

For more information, see the product description.

List prices

Product

Item no.
Description
Technology
Price
P414-025R
SALSA MLPA Probemix P414 MDS – 25 rxn
€ 286.00
P414-050R
SALSA MLPA Probemix P414 MDS – 50 rxn
€ 560.00
P414-100R
SALSA MLPA Probemix P414 MDS – 100 rxn
€ 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)
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 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
SD029
€ 24.15

Other products

These optional accessories can be ordered separately.

Item no.
Description
Technology
Price
SMR05
SALSA FFPE Solution (SFS) – 50 rxn (10 ml)
€ 45.00

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.

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.

The commercially available positive samples below can be used with the current (C1) version of this product.

Chromosome 3

  • Coriell NA03563: Heterozygous duplication affecting the probes for GATA2 and MECOM.

Chromosome 5

Chromosome 7

Chromosome 8

  • Coriell NA02030: Heterozygous duplication affecting the probes for FGFR1, NCOA2, RUNX1T1, MYC and PTK2.
  • Coriell NA03999: Heterozygous deletion affecting the probe for MYC.
  • Coriell NA14485: Heterozygous duplication affecting the probe for FGFR1.
  • Coriell NA20263: Heterozygous duplication affecting the probe for PTK2.

Chromosome 11

  • Coriell NA09102: Heterozygous deletion affecting the probes for TIRAP and ETS1.
  • Coriell NA15099: Heterozygous duplication affecting the probes for KMT2A, TIRAP and ETS1.

Chromosome 12

  • Coriell NA07981: Heterozygous triplication/homozygous duplication affecting the probes for ETV6 and CDKN1B.

Chromosome 17

  • Coriell NA02587: Heterozygous mosaic deletion affecting the probes for NF1, SUZ12 and AATF.

Chromosome 20

  • Coriell NA07945: Heterozygous deletion affecting the probes for SRC and HNF4A.

Various

  • DSMZ ACC-203 (SK-N-MC): Heterozygous deletion affecting the probe for MLH1 on chromosome 3 and TP53 on chromosome 17. Gain affecting the probes for GATA2 and MECOM on chromosome 3 and FGFR1, NCOA2, RUNX1T1, MYC and PTK2 on chromosome 8. Some of the reference probes are also affected by CNAs.
  • DSMZ ACC-554 (MOLM-13): Gain affecting the probes for FGFR1, NCOA2, RUNX1T1, MYC and PTK2 on chromosome 8 and SMARCA4 and PRPF31 on chromosome 19.
  • DSMZ ACC-686 (KASUMI-6): Gain affecting the probes for MECOM on chromosome 3 and KMT2A Exon 4 on chromosome 11. Heterozygous deletion affecting the probes for ETV6 and CDKN1B on chromosome 12 and TP53 on chromosome 17. Some of the reference probes are also affected by CNAs.

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