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P472 SUFU

SALSA MLPA Probemix P472 SUFU detects copy number variations in the SUFU gene.

Specifications

Contents: 30 MLPA probes, including 15 probes for SUFU.

Tissue: human genomic DNA, including DNA from FFPE tissue.

Application: research on Gorlin syndrome, and predisposition to several cancer types.

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

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List Prices Documentation

Key related products

P044 NF2

Contains probes for all exons of the NF2 gene, involved in familial meningioma.

P067 PTCH1

Contains probes for all exons of the PTCH1 gene (except for exon 9), involved in basal cell nevus (Gorlin) syndrome.

P225 PTEN

Contains at least two probes for all exons of the PTEN gene, involved in familial meningioma.

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General information

The SALSA MLPA Probemix P472 SUFU is a research use only (RUO) assay for the detection of deletions or duplications in the SUFU gene, which is associated with Gorlin syndrome and predisposition to several cancer types.

The SUFU gene (OMIM 607035) encodes a component of the Sonic hedgehog (SHH)/Patched (PTCH) signalling pathway. Mutations in the SUFU gene are expected to result in the same clinical phenotype as mutations in the better known PTCH1 gene (OMIM 601309). Screening for the SUFU gene is therefore suggested when the PTCH1 gene is wildtype in patients with clinical basal cell nevus (Gorlin) syndrome (OMIM#109400). Germline mutations in the SUFU gene are suggested to predispose to infant desmoplastic/ nodular medulloblastomas, basal cell carcinomas and meningiomas. This SUFU susceptibility gene shows autosomal dominant inheritance with an incomplete penetrance. In addition to point mutations, both whole SUFU gene duplications and partial SUFU gene deletions have been described (Brugieres et al. 2012; Smith et al. 2014; Kenawy et al. 2019).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1151/

Regulatory status

SALSA MLPA Probemix P472 SUFU is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P472-025R
SALSA MLPA Probemix P472 SUFU – 25 rxn
MLPA
€ 296.00
P472-050R
SALSA MLPA Probemix P472 SUFU – 50 rxn
MLPA
€ 580.00
P472-100R
SALSA MLPA Probemix P472 SUFU – 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.

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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