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P211 HSP region

SALSA® MLPA® Probemix P211 HSP region detects copy number variations in the SPAST and NIPA1 genes.

Specifications

Contents: 39 MLPA probes, including 13 probes for the 2p22.3 region (SPAST region, DPY30 and SLC30A6), and 13 probes for the 15q11.2 region (HERC2P2, GOLGA6L2, WHAMML1, NIPA1, NIPA2, TUBGCP5, CYFIP1 and MAGEL2).

Tissue: human genomic DNA.

Application: research on hereditary spastic paraplegias (HSPs).

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

General information

The SALSA MLPA Probemix P211 HSP region is a research use only (RUO) assay for the detection of deletions or duplications in the SPAST gene and other genes located in the 2p22.3 region and 15q11.2 region, which are associated with Hereditary spastic paraplegias (HSPs).

HSPs are a large and diverse group of genetically heterogeneous neurodegenerative disorders characterised by progressive lower limb/lower extremity spasticity and weakness. Defects in the SPAST gene (also known as SPG4) on chromosome 2p22 are identified as one of the causes for autosomal dominant pure HSP. The protein encoded by this gene is spastin which is involved in membrane shaping and modelling events.

This probemix contains probes for the first exon and intron and probes for exon 16 and 17 of the SPAST gene and the flanking regions of SPAST (2p22.3 region). This probemix furthermore contains probes for the NIPA1 gene (also known as SPG6) and probes for the nearby genes of NIPA1, such as the WHAMML1 and HERC2P2 genes (15q11.2 region). Probes for these flanking genes of NIPA1 have been included to distinguish NIPA1 defects from larger deletions in the Prader-Willi/Angelman syndrome region. The database of genomic variants mentions several copy number changes in this genomic region that have been found in healthy individuals (see http://dgv.tcag.ca/dgv/app/home).

Regulatory status

SALSA MLPA Probemix P211 HSP region is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P211-025R
SALSA MLPA Probemix P211 HSP region – 25 rxn
€ 286.00
P211-050R
SALSA MLPA Probemix P211 HSP region – 50 rxn
€ 560.00
P211-100R
SALSA MLPA Probemix P211 HSP region – 100 rxn
€ 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)
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 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.

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.

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