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SALSA MLPA Probemix P081 NF1 mix 1

SALSA® MLPA® probemixes P081 NF1 mix 1 and P082 NF1 mix 2 detect copy number variations in the NF1 gene.

Specifications

Contents: P081 NF1 mix 1 and P082 NF1 mix 2 together contain 90 MLPA probes, including 67 probes for NF1 (covering all 58 exons) and two probes for OMG.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: neurofibromatosis type 1 (NF1).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

SALSA MLPA Probemix P044 NF2

Contains probes for the NF2 gene, involved in Neurofibromatosis type 2.

SALSA MLPA Probemix P082 NF1 mix 2

Neurofibromatosis type 1 – contains probes for NF1.

SALSA MLPA Probemix P122 NF1-area

Contains probes for the 17q11.2 region, involved in Neurofibromatosis type 1.

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Intended purpose

The SALSA MLPA Probemixes P081 NF1 mix 1 and P082 NF1 mix 2 are in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assays for the detection of deletions or duplications in the NF1 gene in genomic DNA isolated from human peripheral whole blood specimens. P081 NF1 mix 1 and P082 NF1 mix 2 are intended to confirm a potential cause for and clinical diagnosis of Neurofibromatosis type 1 (NF1) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Neurofibromatosis is an autosomal dominant disorder characterised particularly by café-au-lait spots and fibromatous tumours of the skin. Neurofibromatosis type 1 is caused by loss-of-function mutations in the NF1 gene on 17q11.2. Neurofibromatosis type 2 is caused by defects in the NF2 gene on chromosome 22q12.2, for which the SALSA MLPA Probemix P044 NF2 can be used.

Estimated birth incidence of Neurofibromatosis type 1 is 1 in 3000, with about half of the NF1 cases caused by de novo sporadic mutations. De novo sporadic mutations may also be the result of germline mosaicism in apparently unaffected parents. Partial deletions and duplications as well as deletions and duplications of the complete NF1 gene have been described. Relatively common (5-10% of NF1 cases) is a deletion of a 1.4 Mb chromosomal region harbouring multiple genes, including the NF1 gene. The phenotype of this 17q11.2 microdeletion is usually more severe than most other NF1 cases and may include developmental delay. Next to the 1.4 Mb deletion described above, a 1.2 Mb microdeletion and nonrecurrent atypical microdeletions of different sizes have been reported. The SALSA MLPA Probemix P122 NF1-area (RUO) can be used to determine the extent of the deletion as it contains many probes for other genes in the frequently deleted 1.4 Mb region. More information is available on https://www.ncbi.nlm.nih.gov/books/NBK1109/.

Regulatory status

SALSA MLPA Probemix P081 NF1 mix 1 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia and Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P081-025R
SALSA MLPA Probemix P081 NF1 mix 1 – 25 rxn
MLPA
€ 281.00
P081-050R
SALSA MLPA Probemix P081 NF1 mix 1 – 50 rxn
MLPA
€ 550.00
P081-100R
SALSA MLPA Probemix P081 NF1 mix 1 – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

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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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.