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P359 PLOD1

SALSA MLPA Probemix P359 PLOD1 detects copy number variations in the PLOD1 gene.

Specifications

Contents: 27 MLPA probes, including 19 probes for PLOD1.

Tissue: human genomic DNA.

Application: research on PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (EDS).

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

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List Prices Documentation

Key related products

P143 MFN2-MPZ

Contains probes for the MFN2 gene located downstream of PLOD1 gene.

P155 EDS

Contains probes for the COL3A1 and TNXB genes (Vascular Ehlers-Danlos syndrome (vEDS) and classic-like Ehlers-Danlos syndrome (clEDS)).

P271 COL1A1

Contains probes for the COL1A1 gene (Osteogenesis imperfecta).

View all

General information

The SALSA MLPA Probemix P359 PLOD1 is a research use only (RUO) assay for the detection of deletions or duplications in the PLOD1 gene, which is associated with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. Currently, there are six major types of EDS.

PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (also known as EDS type VI; OMIM # 225400) is an autosomal recessive generalized connective tissue disorder, characterised by progressive curvature of the spine (kyphoscoliosis), fragile eyes, severe muscle weakness (hypotonia), and generalized joint hypermobility in association with skin fragility. It is caused by mutations in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, which encodes lysyl hydroxylase 1. This enzyme plays an important role in the formation and stabilization of collagens. The expected number of PLOD1 deletions/duplications which can be detected with this MLPA probemix is approximately 33% (Giunta et al. 2005, Pousi et al. 1994, Pousi et al. 1998, Yeowell et al. 2000). The PLOD1 gene contains 19 exons, spans ~41 kb of genomic DNA, and is located on 1p36.22.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1462/.

Regulatory status

SALSA MLPA Probemix P359 PLOD1 is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P359-025R
SALSA MLPA Probemix P359 PLOD1 – 25 rxn
MLPA
€ 286.00
P359-050R
SALSA MLPA Probemix P359 PLOD1 – 50 rxn
MLPA
€ 560.00
P359-100R
SALSA MLPA Probemix P359 PLOD1 – 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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