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P278 PCCA-PCCB

SALSA MLPA Probemix P278 PCCA-PCCB detects copy number variations in the PCCA and PCCB genes.

Specifications

Contents: 51 MLPA probes, including 27 probes for PCCA (covering all exons), and 15 probes for PCCB (covering all exons).

Tissue: human genomic DNA.

Application: research on propionic acidemia (PA).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P278 PCCA-PCCB is a research use only (RUO) assay for the detection of deletions or duplications in the PCCA and PCCB genes, which are associated with propionic acidemia.

Propionic acidemia (PA) is an autosomal recessive disorder. PA is a disease with a wide clinical spectrum, and can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. The worldwide incidence of PA is estimated to be 1 in 50.000 to 100.000 live births and higher in some specific populations.

PA is caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC) that catalyzes the conversion of propionyl-CoA to methylmalonyl-CoA. The enzyme PCC is composed of α- and β-subunits which are encoded by the PCCA and PCCB genes localized on chromosomes 13q32.3 and 3q22.3, respectively. Missense mutations are predominant in PCC genes. Exon deletions account for ~20% of PCCA disease-causing alleles, while only three large deletions in PCCB have been described causing PA (Chiu et al. 2014, Desviat et al. 2006, Kraus et al. 2012).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK92946.

Regulatory status

SALSA MLPA Probemix P278 PCCA-PCCB is for research use only (RUO) in all territories.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P278-025R
SALSA MLPA Probemix P278 PCCA-PCCB – 25 rxn
MLPA
€ 286.00
P278-050R
SALSA MLPA Probemix P278 PCCA-PCCB – 50 rxn
MLPA
€ 560.00
P278-100R
SALSA MLPA Probemix P278 PCCA-PCCB – 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 (D1) version of this product.

Resources

General MLPA resources

MLPA education

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