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P431 FOXF1

SALSA MLPA Probemix P431 FOXF1 detects copy number variations in the FOXF1 gene, the 16q24.1 chromosomal region, and the MYCN gene.

Specifications

Contents: 38 MLPA probes, including 25 probes for the FOX gene cluster (including probes for FOXF1, FOXC2 and FOXL1), and 5 probes for MYCN.

Tissue: human genomic DNA.

Application: research on alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), and Feingold syndrome (FS).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P431 FOXF1 is a research use only (RUO) assay for the detection of deletions or duplications in the FOXF1 gene, the 16q24.1 chromosomal region, and the MYCN gene, which are associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) and Feingold syndrome (FS) respectively.

ACD/MPV is a rare, neonatal and lethal development disorder of the lungs. In patients with ACD/MPV, Stankiewicz et al. identified four different heterozygous mutations in the candidate FOXF1 gene and overlapping micro-deletions encompassing the FOX transcription factor gene cluster on chromosome 16q24.1. (Stankiewicz P et al. 2009, Am J Hum Genet. 84:780-91). In addition, deletions in either a shared deletion region (SDR) of 75 kb, located 257 kb upstream of FOXF1, and a 0.8 kb deletion within the 1.4 kb intron 1 of FOXF1 have been found (Szafranski P et al. 2013, Genome Res. 23:23-33; Szafranski P et al. 2013, Hum Mut. 11:1467-71).

FS is a rare autosomal dominant inherited condition that is characterised by microcephaly, limb malformations, esophageal atresia, and other malformations. Defects (haploinsufficiency, mutations, (micro)deletions) in the MYCN proto-oncogene on chromosome 2p24.3 is the main cause of FS. The MYCN gene is a member of the MYC family and encodes the transcriptional regulator N-myc regulating many target genes involved in the cell cycle.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK7050/.

Regulatory status

SALSA MLPA Probemix P431 FOXF1 is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P431-025R
SALSA MLPA Probemix P431 FOXF1 – 25 rxn
MLPA
€ 296.00
P431-050R
SALSA MLPA Probemix P431 FOXF1 – 50 rxn
MLPA
€ 580.00
P431-100R
SALSA MLPA Probemix P431 FOXF1 – 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

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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