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P338 GBA

SALSA MLPA Probemix P338 GBA detects copy number variations in the GBA region.

Specifications

Contents: 23 MLPA probes, including 9 probes for GBA region of which two detect the wild-type sequence of the c.1265_1319del and c.1448T>C mutations.

Tissue: human genomic DNA.

Application: research on Gaucher disease.

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

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List Prices Documentation

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This product is for basic research and intended for experienced users only! Interpretation of results may be complicated, and MRC Holland may only be able to provide basic support.

General information

The SALSA MLPA Probemix P338 GBA is a research use only (RUO) assay for the detection of deletions or duplications in the GBA gene, which is associated with Gaucher disease. This probemix can also be used to detect the presence of the 55-bp deletion (c.1265_1319del) in GBA exon 9 and the c.1448T>C point mutation (p.L444P; also known as p.L483P) in GBA exon 10.

Gaucher disease is an autosomal recessive lysosomal storage disorder that is caused by a deficiency in beta-glucocerebrosidase enzyme activity. Beta-glucocerebrosidase is a lysosomal protein that cleaves the beta-glucosidic linkage of glucosylceramide (GlcCer, glucosylcerebroside), an intermediate in glycolipid metabolism. As a result of beta-glucocerebrosidase deficiency, there is intracellular accumulation of glucosylceramide primarily within cells of mononuclear phagocyte origin. This accumulation of fatty materials transforms the cells into so-called 'Gaucher cells' with a characteristic crumpled tissue paper appearance. Beta-glucocerebrosidase is encoded by the GBA gene on chromosome 1q22. Defects in the GBA gene are the main cause of Gaucher disease.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1269/.

Regulatory status

SALSA MLPA Probemix P338 GBA is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P338-025R
SALSA MLPA Probemix P338 GBA – 25 rxn
MLPA
€ 286.00
P338-050R
SALSA MLPA Probemix P338 GBA – 50 rxn
MLPA
€ 560.00
P338-100R
SALSA MLPA Probemix P338 GBA – 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 (B2) version of this product.

Resources

General MLPA resources

MLPA education

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