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P026 Sotos

SALSA MLPA Probemix P026 Sotos detects copy number variations in the NSD1 and NFIX genes.

Specifications

Contents: 46 MLPA probes, including 25 probes for the NSD1 region (covering all NSD1 exons) and 10 probes for NFIX.

Tissue: human genomic DNA.

Application: research on Sotos and associated syndromes.

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

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List Prices Documentation

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General information

The SALSA MLPA Probemix P026 Sotos is a research use only (RUO) assay for the detection of deletions or duplications in the NSD1 and NFIX genes, which are associated with Sotos syndrome.

Sotos syndrome is a non-progressive neurological disorder with intellectual disability, characterised by overgrowth and a distinctive craniofacial configuration. The syndrome is associated with a number of abnormalities: brain, cardiac, urogenital, musculoskeletal (scoliosis), ophthalmologic, dental and neoplastic. It is a genetic disorder due to haploinsufficiency of the NSD1 gene (Nuclear receptor-binding SET Domain protein 1). A Sotos-like phenotype has also been associated with Malan syndrome (known as Sotos syndrome 2) which is caused by deletions of the NFIX gene. NFIX mutations distinctly cause Malan syndrome or Marshall-Smith syndrome, Malan syndrome being associated with amongst others whole gene deletions (Klaassens et al. 2015).

The NSD1 gene (23 exons) spans ~166 kb of genomic DNA and is located on chromosome 5q35.3, ~177 Mb from the p-telomere. The NFIX gene (10 exons), spans ~103 kb of genomic DNA and is located on chromosome 19p13.13, ~13 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1479/.

Regulatory status

SALSA MLPA Probemix P026 Sotos is for research use only (RUO) in all territories.

Product documentation

Version E2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P026-025R
SALSA MLPA Probemix P026 Sotos – 25 rxn
MLPA
€ 286.00
P026-050R
SALSA MLPA Probemix P026 Sotos – 50 rxn
MLPA
€ 560.00
P026-100R
SALSA MLPA Probemix P026 Sotos – 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.

The commercially available positive samples below can be used with the current (E2) version of this product.

Resources

General MLPA resources

MLPA education

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