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P022 PLP1

SALSA MLPA Probemix P022 PLP1 detects copy number variations in the PLP1 gene and Xq22 region.

Specifications

Contents: 37 MLPA probes, including 7 probes for PLP1 and 20 probes for the Xq22 region.

Tissue: human genomic DNA.

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

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List Prices Documentation

Key related products

P071 LMNB1-PLP1-NOTCH3

Contains probes for the LMNB1, PLP1 and NOTCH3 genes.

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General information

The SALSA MLPA Probemix P022 PLP1 is a research use only (RUO) assay for the detection of deletions or duplications in the PLP1 gene and the Xq22 region, which are associated with PLP1 disorders ranging from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia type 2 (SPG2).

PLP1 disorders are rare X-linked neurological disorders caused by pathogenic variants in the PLP1 gene and resulting in defective central nervous system myelination. The PLP1 gene encodes a transmembrane proteolipid protein that is the predominant component of myelin in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. PMD (OMIM #312080) and SPG2 (OMIM #312920) are at opposite ends of the clinical spectrum of PLP1 disorders, PMD being more severe than SPG2. PMD symptoms can begin in infancy and include amongst others nystagmus, cognitive impairment, progressive spasticity, ataxia and hypotonia, with a shortened lifespan. SPG2 manifests as spastic paraparesis, usually with a normal life span.

The PLP1 gene (8 exons) spans ~16 kb of genomic DNA and is located on chromosome Xq22.2, about 103 Mb from the p-telomere. Complete duplication of the PLP1 gene can be found in up to up to 70% of the PMD cases, whereas deletions of this gene as well as point mutations in coding or splice site regions are involved in the majority of the remaining cases. Heterozygous females with a PLP1 duplication are usually asymptomatic.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1182/.

Regulatory status

SALSA MLPA Probemix P022 PLP1 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
P022-025R
SALSA MLPA Probemix P022 PLP1 – 25 rxn
MLPA
€ 286.00
P022-050R
SALSA MLPA Probemix P022 PLP1 – 50 rxn
MLPA
€ 560.00
P022-100R
SALSA MLPA Probemix P022 PLP1 – 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.

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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