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P454 CGD

SALSA MLPA Probemix P454 CGD detects copy number variations in the CYBA, CYBB, NCF2 and NCF4 genes.

Specifications

Contents: 38 MLPA probes, including 3 probes for CYBA, 12 probes for CYBB, 10 probes for NCF2, and 4 probes for NCF4.

Tissue: human genomic DNA.

Application: research on chronic granulomatous disease (CGD).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P454 CGD is a research use only (RUO) assay for the detection of deletions or duplications in the CYBA, CYBB, NCF2 and NCF4 genes, which are associated with chronic granulomatous disease (CGD).

Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of skin, airways, lymph nodes, liver, brain and/or bones. CGD is a rare (∼1:250 000 births) recessive disorder caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. The genes encoding the five NADPH oxidase components are CYBB (located on the X-chromosome), and the autosomal genes CYBA, NCF1, NCF2 and NCF4. Approximately 70% of the CGD patients have a mutation in CYBB. The remainder of the patients have mutations in NCF1 (~ 20%), in CYBA (~ 5%) or in NCF2 (~ 5%). Only one patient with NCF4 mutations has been reported (Matute et al. 2009). Copy number variations account for approximately 15% of pathogenic variants in each of the CYBA, CYBB and NCF2 genes.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK99496/.

Regulatory status

SALSA MLPA Probemix P454 CGD 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
P454-025R
SALSA MLPA Probemix P454 CGD – 25 rxn
MLPA
€ 296.00
P454-050R
SALSA MLPA Probemix P454 CGD – 50 rxn
MLPA
€ 580.00
P454-100R
SALSA MLPA Probemix P454 CGD – 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

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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