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P437 Familial MDS-AML

SALSA MLPA Probemix P437 Familial MDS-AML detects copy number variations in the GATA2, TERC, TERT, CEBPA and RUNX1 genes.

Specifications

Contents: 59 MLPA probes, including 9 probes for GATA2, 4 probes for the TERC region, 16 probes for TERT, 3 probes for CEPBA, 10 probes for RUNX1, and probes for GATA2 p.R398W (c.1192C>T), GATA2 p.T354M (c.1061C>T), and TERT p.A1062T (c.3184G>A).

Tissue: human genomic DNA.

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

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

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List Prices Documentation

Key related products

P257 TERT-DKC1

Contains other probes for the TERT and TERC genes.

P327 iAMP21-ERG

Contains probes for the RUNX1 gene and its flanking regions.

View all

General information

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 and 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 and AML cases have also been identified and included as a separate disease entity in World Health Organization (WHO) classification of hematological cancers. Inherited mutations in the GATA2, TERC, TERT, CEBPA and RUNX1 genes have been shown to associate with familial MDS and 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).

Regulatory status

SALSA MLPA Probemix P437 Familial MDS-AML is for research use only (RUO) in all territories.

SALSA Sample DNA for this product

SALSA Binning DNA SD070 is an artificial DNA sample with a signal for all probes in the P437 Familial MDS-AML probemix. Inclusion of a reaction with SD070 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 SD070 is included with every order of the P437 Familial MDS-AML probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P437-025R
SALSA MLPA Probemix P437 Familial MDS-AML – 25 rxn
MLPA
€ 296.00
P437-050R
SALSA MLPA Probemix P437 Familial MDS-AML – 50 rxn
MLPA
€ 580.00
P437-100R
SALSA MLPA Probemix P437 Familial MDS-AML – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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
SD070
SALSA Binning DNA SD070 – 6 rxn
MLPA
€ 25.00

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.

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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