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P071 LMNB1-PLP1-NOTCH3

SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 detects copy number variations in the LMNB1, PLP1 and NOTCH3 genes.

Specifications

Contents: 34 MLPA probes, including 12 probes for LMNB1 (covering all exons), 7 probes for PLP1, and 3 probes for NOTCH3.

Tissue: human genomic DNA.

Application: research on autosomal dominant leukodystrophy with autonomic disease (ADLD), Pelizaeus-Merzbacher disease (PMD), and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

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

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List Prices Documentation

Key related products

P022 PLP1

Contains probes for the PLP1 gene, involved in Pelizaeus-Merzbacher disease.

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General information

The SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 is a research use only (RUO) assay for the detection of deletions or duplications in the LMNB1, PLP1 and NOTCH3 genes, which are associated with autosomal dominant leukodystrophy with autonomic disease (ADLD), Pelizaeus-Merzbacher disease (PMD), and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), respectively.

Autosomal dominant leukodystrophy with autonomic disease (ADLD) is a slowly progressive neurological disorder that is characterised by widespread loss of myelin in the central nervous system. Symptoms develop in the fourth or fifth decade of life and include problems with the autonomous nervous system, followed by movement difficulties. ADLD is caused by mutations in the LMNB1 gene on chromosome 5q23.2, with most cases resulting from a duplication of the LMNB1 gene.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked neurological disorder that is caused by demyelination in the central nervous system. The age of onset is typically during infancy or early childhood. PMD is caused by mutations in the PLP1 gene on chromosome Xq22.2. Duplication of the complete PLP1 gene accounts for 50-70% of PMD cases, whereas point mutations and deletions are involved in the majority of the remaining cases. In addition to PMD, defects in the PLP1 gene can also result in spastic paraplegia type 2 (SPG2).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition characterized by migraine, strokes, mood disorders, and cognitive decline that can result in dementia. CADASIL has a mid-adult onset and is caused by mutations in the NOTCH3 gene on chromosome 19p13.12. Defects in the NOTCH3 gene can also lead to lateral meningocele syndrome.

Regulatory status

SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 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
P071-025R
SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 – 25 rxn
MLPA
€ 286.00
P071-050R
SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 – 50 rxn
MLPA
€ 560.00
P071-100R
SALSA MLPA Probemix P071 LMNB1-PLP1-NOTCH3 – 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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