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P076 ACADVL-SLC22A5

SALSA MLPA Probemix P076 ACADVL-SLC22A5 detects copy number variations in the ACADVL and SLC22A5 genes.

Specifications

Contents: 42 MLPA probes, including 20 probes for ACADVL, and 10 probes for SLC22A5 (covering all exons).

Tissue: human genomic DNA.

Application: research on very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, and primary carnitine deficiency.

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

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List Prices Documentation

Key related products

P465 ACADM

Contains probes for the ACADM gene, involved in Medium-Chain Acyl-Coenzyme A Dehydrogenase (MCAD) Deficiency.

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General information

The SALSA MLPA Probemix P076 ACADVL-SLC22A5 is a research use only (RUO) assay for the detection of deletions or duplications in the ACADVL and SLC22A5 genes, which are associated with Very Long-Chain Acyl-coenzyme A Dehydrogenase (VLCAD) deficiency and primary carnitine deficiency.

VLCAD deficiency (OMIM 201475) is a fatty acid oxidation disorder that is detected in new-born screening. VLCAD is a metabolic disorder which prevents the converting of certain fats to energy. Defects of the ACADVL (acyl-Coenzyme A dehydrogenase, very long chain) gene are the cause of VLCAD deficiency; 80% of the cases of VLCAD deficiency are caused by mutations in the ACADVL gene and 20% of the cases are caused by complete or partial deletions of ACADVL.

Another fatty acid oxidation disorder is primary carnitine deficiency (OMIM 212140). Most cases of primary carnitine deficiency are caused by mutations in the SLC22A5 gene (solute carrier family 22 member 5), however, 20% of the cases do not show any mutation and might be caused by (partial) deletions of SLC22A5.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK6816/ and https://www.ncbi.nlm.nih.gov/books/NBK84551/.

Regulatory status

SALSA MLPA Probemix P076 ACADVL-SLC22A5 is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P076-025R
SALSA MLPA Probemix P076 ACADVL-SLC22A5 – 25 rxn
MLPA
€ 286.00
P076-050R
SALSA MLPA Probemix P076 ACADVL-SLC22A5 – 50 rxn
MLPA
€ 560.00
P076-100R
SALSA MLPA Probemix P076 ACADVL-SLC22A5 – 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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