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P120 PANK2/PLA2G6

SALSA MLPA Probemix P120 PANK2/PLA2G6 detects copy number variations in the PANK2 and PLA2G6 genes.

Specifications

Contents: 41 MLPA probes, including 12 probes for PANK2, and 18 probes for PLA2G6.

Tissue: human genomic DNA.

Application: research on neurodegeneration with brain iron accumulation (NBIA).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P120 PANK2/PLA2G6 is a research use only (RUO) assay for the detection of deletions or duplications in the PANK2 and PLA2G6 genes, which are associated with neurodegeneration with brain iron accumulation (NBIA).

NBIA is a rare autosomal recessive condition characterised by abnormal iron deposition in the basal ganglia and neuroaxonal dystrophy causing extrapyramidal features, dementia, and ocular abnormalities. The PANK2 gene encodes the pantothenate kinase enzyme, which is expressed at high levels in the brain. Pantothenate kinase is an essential regulatory enzyme in the biosynthesis of coenzyme A, which is important in intermediary and fatty acid metabolism. Mutations in PANK2 are associated with NBIA type 1, Harp syndrome, and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Mutations in PLA2G6, which encodes phospholipase A2, can cause NBIA type 2 that is characterised by abnormal iron accumulation.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK121988/.

Regulatory status

SALSA MLPA Probemix P120 PANK2/PLA2G6 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
P120-025R
SALSA MLPA Probemix P120 PANK2/PLA2G6 – 25 rxn
MLPA
€ 296.00
P120-050R
SALSA MLPA Probemix P120 PANK2/PLA2G6 – 50 rxn
MLPA
€ 580.00
P120-100R
SALSA MLPA Probemix P120 PANK2/PLA2G6 – 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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