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P453 GAA

SALSA MLPA Probemix P453 GAA detects copy number variations in the GAA gene.

Specifications

Contents: 27 MLPA probes, including 18 probes for GAA.

Tissue: human genomic DNA.

Application: research on Pompe disease.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P453 GAA is a research use only (RUO) assay for the detection of deletions or duplications in the lysosomal acid alpha-glycosidase (GAA) gene, which is associated with Pompe disease.

Acid alpha-glycosidase is active in lysosomes where it breaks down glycogen. Mutations in the GAA gene cause Pompe disease, a condition where the activity of acid alpha-glycosidase is significantly reduced. As a results, glycogen builds up to toxic levels in the lysosome. This accumulation damages multiple organs and tissues, particularly muscles, leading to progressive muscle weakness, heart problems, and other features.

Pompe disease can be classified by age of onset and severity. Infantile-onset Pompe disease (IOPD) begins before the age of 12 months, usually within a few months after birth, and is characterized by cardiomyopathy. Late-onset Pompe disease (LOPD) includes individuals with onset before 12 months of age without cardiomyopathy and individuals with onset after 12 months.

Pompe disease is inherited in an autosomal recessive manner. Approximately 5-13% of pathogenic GAA variants are intragenic deletions or duplications.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1261/

Regulatory status

SALSA MLPA Probemix P453 GAA is for research use only (RUO) in all territories.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P453-025R
SALSA MLPA Probemix P453 GAA – 25 rxn
MLPA
€ 286.00
P453-050R
SALSA MLPA Probemix P453 GAA – 50 rxn
MLPA
€ 560.00
P453-100R
SALSA MLPA Probemix P453 GAA – 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 (A2) version of this product.

Resources

General MLPA resources

MLPA education

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