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P079 OTC

SALSA MLPA Probemix P079 OTC detects copy number variations in the OTC gene.

Specifications

Contents: 20 MLPA probes, including 10 probes for OTC (covering all exons).

Tissue: human genomic DNA.

Application: research on ornithine transcarbamylase deficiency (OTCD).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P079 OTC is a research use only (RUO) assay for the detection of deletions or duplications in the OTC gene, which is associated with Ornithine Transcarbamylase Deficiency (OTCD).

OTCD is characterized by a frequent inborn error of the urea cycle, a partially dominant X-linked trait causing hyperammonemia and orotic aciduria. Missense, nonsense, and frameshift mutations in the gene ornithine carbamoyltransferase (OTC) lead to OTCD. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix enzyme that catalyses the second step of the urea cycle in mammals. Severe deficiency or total absence of OTC results in the accumulation of ammonia and other precursor metabolites during the first few days of life.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK154378/.

Regulatory status

SALSA MLPA Probemix P079 OTC is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P079-025R
SALSA MLPA Probemix P079 OTC – 25 rxn
MLPA
€ 286.00
P079-050R
SALSA MLPA Probemix P079 OTC – 50 rxn
MLPA
€ 560.00
P079-100R
SALSA MLPA Probemix P079 OTC – 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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