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P331 COL5A1 MIX-1

SALSA MLPA probemixes P331 COL5A1 MIX-1 and P332 COL5A1 MIX-2 detect copy number variations in the COL5A1 gene.

Specifications

Contents: P331 COL5A1 MIX-1 and P332 COL5A1 MIX-2 together contain 76 MLPA probes, including 56 probes for COL5A1.

Tissue: human genomic DNA.

Application: research on classic Ehlers-Danlos syndromes (EDS).

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

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List Prices Documentation

Key related products

P332 COL5A1 MIX-2

Targets COL5A1, associated with classic Ehlers-Danlos syndromes (EDS). Intended to be used together with P331 COL5A1 MIX-1.

P191 X-linked Alport syndrome mix 1

Targets COL4A5, associated with X-linked Alport syndrome (XLAS). Intended to be used together with P192 X-linked Alport syndrome mix 2.

P214 COL2A1

Targets COL2A1, associated with type II collagen disorders.

P271 COL1A1

Targets COL1A1, associated with osteogenesis imperfecta (OI).

P381 COL11A1 mix 1

Targets COL11A1, associated with Marshall and type II Stickler syndromes. Intended to be used together with P382 COL11A1 mix 2.

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General information

The SALSA MLPA Probemixes P331 COL5A1 MIX-1 and P332 COL5A1 MIX-2 are a research use only (RUO) assays for the detection of deletions or duplications in the COL5A1 gene, which is associated with classic Ehlers-Danlos syndromes.

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders characterised by hyperextensible skin, articular/joint hypermobility and soft tissue fragility. The classic type of EDS, formly known as type I and II, is caused by mutations in the type V collagen genes COL5A1 and COL5A2 and is inherited in an autosomal dominant manner. Mutations of COL5A1 account for 75-78% of classic EDS. Studies suggest that type V collagen controls the assembly of heterotypic fibres composed of type I and type V collagen as well as the assembly of other collagen types.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1244/

Regulatory status

SALSA MLPA Probemix P331 COL5A1 MIX-1 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
P331-025R
SALSA MLPA Probemix P331 COL5A1 MIX-1 – 25 rxn
MLPA
€ 286.00
P331-050R
SALSA MLPA Probemix P331 COL5A1 MIX-1 – 50 rxn
MLPA
€ 560.00
P331-100R
SALSA MLPA Probemix P331 COL5A1 MIX-1 – 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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