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P471 EOFAD

SALSA MLPA Probemix P471 EOFAD detects copy number variations in the PSEN1, PSEN2 and APP genes.

Specifications

Contents: 53 MLPA probes, including 12 probes for PSEN1, 13 probes for PSEN2, and 20 probes for the APP region (covering all exons of all genes listed).

Tissue: human genomic DNA.

Application: research on early-onset familial Alzheimer disease (EOFAD).

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

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List Prices Documentation

Key related products

P170 APP

Contains probes for the APP gene. Probes present in this probemix have a different ligation site than those in P471.

P254 PSEN1

Contains probes for the PSEN1 gene. Probes present in this probemix have a different ligation site than those in P471.

P275 MAPT-GRN

Contains probes for the MAPT and GRN genes, implicated in Alzheimer’s disease/dementia.

View all

General information

The SALSA MLPA Probemix P471 EOFAD is a research use only (RUO) assay for the detection of deletions or duplications in the PSEN1, PSEN2, and APP genes, which are associated with Early-Onset Familial Alzheimer Disease (EOFAD).

Alzheimer disease (AD) is a chronic neurodegenerative disorder characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. Patients usually suffer from failure of memory, and other features including poor judgement, confusion and language disturbance. AD can be diagnosed in families if multiple members are affected (familial AD; FAD). Early-onset FAD (EOFAD) refers to families in which onset is consistently before the age of 60 to 65 years and often before the age of 55 years.

EOFAD has a genetic component and is inherited in an autosomal dominant manner. Defects in the PSEN1 gene on chromosome 14, APP gene on chromosome 21, and PSEN2 gene on chromosome 1 are the main cause of EOFAD. The protein encoded by the APP gene is the amyloid beta precursor protein which is a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. A part of these peptides form the protein basis of the amyloid plaques found in the brains of patients with AD. The proteins encoded by the PSEN1 and PSEN2 genes are presenilin proteins 1 and 2, respectively. Presenilins are thought to be involved in regulation of the cleavage of the amyloid beta precursor protein (APP) and of the Notch receptor.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1161/

Regulatory status

SALSA MLPA Probemix P471 EOFAD is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P471-025R
SALSA MLPA Probemix P471 EOFAD – 25 rxn
MLPA
€ 286.00
P471-050R
SALSA MLPA Probemix P471 EOFAD – 50 rxn
MLPA
€ 560.00
P471-100R
SALSA MLPA Probemix P471 EOFAD – 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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