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P122 NF1-area

SALSA MLPA Probemix P122 NF1-area detects copy number variations in the NF1 region.

Specifications

Contents: 35 MLPA probes, including 23 probes for the NF1 region (17q11.2), and 2 probes for the 17p12-p13.3 region.

Tissue: human genomic DNA.

Application: research on neurofibromatosis.

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

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List Prices Documentation

Key related products

P081 NF1 mix 1

Targets NF1, involved in neurofibromatosis type I. P081 NF mix 1 and P082 NF mix 2 together target all exons of NF1.

P082 NF1 mix 2

Targets NF1, involved in neurofibromatosis type I.

P044 NF2

Targets NF2, involved in neurofibromatosis type II.

View all

General information

The SALSA MLPA Probemix P122 NF1-area is a research use only (RUO) assay for the detection of deletions or duplications in the region surrounding the neurofibromin 1 (NF1) gene on chromosome 17q11.2, which is associated with neurofibromatosis.

Neurofibromatosis is an autosomal dominant disorder characterised by café-au-lait spots and fibromatous tumours of the skin. Neurofibromatosis type I (NF1) is caused by defects in the NF1 gene on chromosome 17q11.2. NF1 is a cytoplasmic protein predominantly expressed in neurons, Schwann cells and leukocytes. Neurofibromatosis type II is caused by defects in the NF2 gene on chromosome 22q12.2.

Partial deletions of the NF1 gene as well as deletions and duplications of the complete NF1 gene have been described. A deletion of a 1500 kb chromosomal region on 17q11.2 that includes the NF1 gene accounts for 5-10% of NF1 cases. This interstitial 17q11.2 microdeletion arises from unequal crossover between two highly homologous 60 kb duplicons. The phenotype related to the 17q11.2 microdeletion is usually much more severe than most other NF1 cases and may include severe developmental delay.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1109/.

Regulatory status

SALSA MLPA Probemix P122 NF1-area is for research use only (RUO) in all territories.

Product documentation

Version D2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P122-025R
SALSA MLPA Probemix P122 NF1-area – 25 rxn
MLPA
€ 286.00
P122-050R
SALSA MLPA Probemix P122 NF1-area – 50 rxn
MLPA
€ 560.00
P122-100R
SALSA MLPA Probemix P122 NF1-area – 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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