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P057 FANCD2-PALB2

SALSA MLPA Probemix P057 FANCD2-PALB2 detects copy number variations in the FANCD2 and PALB2 genes.

Specifications

Contents: 39 MLPA probes, including 15 probes for FANCD2 and 13 probes for PALB2.

Tissue: human genomic DNA.

Application: Fanconi anemia (FA).

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

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List Prices Documentation

Key related products

P031 FANCA mix 1

Fanconi Anemia group A. Probes for the FANCA gene included.

P032 FANCA mix 2

Fanconi Anemia group A. Probes for the FANCA gene included.

P113 FANCB

Fanconi Anemia group B. Probes for the FANCB gene included.

View all

General information

The SALSA MLPA Probemix P057 FANCD2-PALB2 is a research use only (RUO) assay for the detection of deletions or duplications in the FANCD2 and PALB2 genes, which are associated with Fanconi Anemia (FA).

FA is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as with dermal pigmentary changes. Several FA-associated genes have been identified so far, the products of which function in the FA/BRCA pathway. A key event in the pathway is the monoubiquitination of the FANCD2 protein, which depends on a multiprotein FA core complex. Defects in the FANCD2 gene are one of the possible causes of FA. The FANCD2 gene (44 exons) spans ~73 kb of genomic DNA and is located on chromosome 3p25.3, about 10 Mb from the p-telomere.

FA has also been linked to defects in the PALB2 gene. It was shown that mutations in PALB2 result in an increased susceptibility to breast cancer, that biallelic mutations cause Fanconi anemia subtype FA-N, and predispose to childhood cancers. PALB2 mutations have also been detected in approximately 3% of familial pancreatic cancer families, especially those families in which also breast cancer cases occur (Slater et al. 2010). The PALB2 gene spans ~38 kb of genomic DNA and is located on chromosome 16p12.1, about 24 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1401/.

Regulatory status

SALSA MLPA Probemix P057 FANCD2-PALB2 is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P057-025R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 25 rxn
MLPA
€ 286.00
P057-050R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 50 rxn
MLPA
€ 560.00
P057-100R
SALSA MLPA Probemix P057 FANCD2-PALB2 – 100 rxn
MLPA
€ 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)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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