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P325 OCA2

SALSA MLPA Probemix P325 OCA2 detects copy number variations in the OCA2 and TYR genes.

Specifications

Contents: 42 MLPA probes including 26 probes for OCA2 and 5 probes for TYR.

Tissue: human genomic DNA.

Application: research on oculocutaneous albinism.

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

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List Prices Documentation

Key related products

ME028 Prader-Willi/Angelman

Primary screening for Prader-Willi and Angelman Syndrome (copy number & methylation).

P054 FOXL2-TWIST1

Contains probes for the GPR143 (previously OA1) gene associated with X-linked ocular albinism.

View all

General information

The SALSA MLPA Probemix P325 OCA2 is a research use only (RUO) assay for the detection of deletions or duplications in the OCA2 and TYR genes, which are associated with oculocutaneous albinism.

Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterised by hypopigmentation in the skin, hair and eyes due to disorders in the melanin biosynthesis. There are different types of OCA of which OCA type 1 and type 2 (OCA1 and OCA2) are the most common. Defects in the tyrosinase gene (TYR) and the oculocutaneous albinism gene (OCA2, formerly known as the P gene) are considered to be causes of OCA1 and OCA2, respectively. The protein encoded by the OCA2 gene is the P protein, whereas the protein encoded by the TYR gene is tyrosinase. Tyrosinase is important during the initial steps of melanin production, while the P protein is a transporter protein.

The OCA2 gene (24 exons) spans ~344 kb of genomic DNA and is located on 15q12-q13.1, 26 Mb from the p-telomere. The TYR gene (5 exons) spans ~118 kb of genomic DNA and is located on 11q14.3, 89 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1232/.

Regulatory status

SALSA MLPA Probemix P325 OCA2 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
P325-025R
SALSA MLPA Probemix P325 OCA2 – 25 rxn
MLPA
€ 286.00
P325-050R
SALSA MLPA Probemix P325 OCA2 – 50 rxn
MLPA
€ 560.00
P325-100R
SALSA MLPA Probemix P325 OCA2 – 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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