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P478 SMARCE1

SALSA MLPA Probemix P478 SMARCE1 detects copy number variations in the SMARCE1 gene.

Specifications

Contents: 37 MLPA probes, including 15 probes for the SMARCE1 region.

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

Application: research on familial meningioma, and Coffin-Siris syndrome.

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

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List Prices Documentation

Key related products

P044 NF2

Probes for the NF2 gene, which is implicated in somatic meningioma.

P225 PTEN

Probes for the PTEN gene, which may also be implicated in familial meningioma.

P258 SMARCB1

Probes for the SMARCB1 gene, which is implicated in Coffin-Siris syndrome.

View all

General information

SALSA MLPA Probemix P478 SMARCE1 is a research use only (RUO) assay for the detection of deletions or duplications in the SMARCE1 gene, which is associated with familial meningioma and Coffin-Siris syndrome.

Meningiomas are slow-growing tumours that stem from the meninges. They are the most commonly occurring intracranial neoplasms, accounting for up to 30% of all brain tumours (Starr and Cha, 2017). The SMARCE1 (Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1) gene encodes a component of the SWI/SNF complex, which modulates eukaryotic gene expression and DNA repair via nucleosome remodelling. Heterozygous SMARCE1 loss-of-function mutations have been linked to familial meningioma (MIM number 607174). Partial deletions of SMARCE1 and loss of its expression have been described in spinal meningioma tissue suggesting a tumour suppressor function of this gene (Smith et al. 2013; Smith et al. 2014). Germline mutations in members of SWI/SNF complex, including SMARCE1, have been described also in Coffin-Siris syndrome (MIM number 616938) (Tsurusaki et al. 2014).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK131811/.

Regulatory status

SALSA MLPA Probemix P478 SMARCE1 is for research use only (RUO) in all territories.

Product documentation

Version A2

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P478-025R
SALSA MLPA Probemix P478 SMARCE1 – 25 rxn
MLPA
€ 296.00
P478-050R
SALSA MLPA Probemix P478 SMARCE1 – 50 rxn
MLPA
€ 580.00
P478-100R
SALSA MLPA Probemix P478 SMARCE1 – 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

Other products

These optional accessories can be ordered separately.

Item no.
Description
Technology
Price
SMR05
SALSA FFPE Solution (SFS) – 50 rxn (10 ml)
MLPA MS-MLPA
€ 47.00

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.

The commercially available positive samples below can be used with the current (A2) version of this product.

  • DSMZ ACC-180 (HEP-G2): Gain affecting the probes for TNS4, CCR7, SMARCE1, KRT222, KRT24 and BRIP1. Some of the reference probes are also affected by CNAs.
  • DSMZ ACC-259 (HUP-T3): Heterozygous deletion affecting the probes for AIPL1. Gain affecting the probes for TNS4, CCR7, SMARCE1, KRT222 and KRT24. Some of the reference probes are also affected by CNAs.
  • DSMZ ACC-410 (MFE-280): Gain affecting the probes for AIPL1, FLCN4, TNS4, CCR7, SMARCE1, KRT222, KRT24, and BRIP1. Some of the reference probes are also affected by CNAs.

Resources

General MLPA resources

MLPA education

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