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P186 PAX3-MITF-SOX10

SALSA MLPA Probemix P186 PAX3 MITF SOX10 detects copy number variations in the PAX3, MITF and SOX10 genes.

Specifications

Contents: 41 MLPA probes, including 14 probes for PAX3, 12 probes for MITF (of which 4 probes for the alternative transcript variant 1, NM_198159.3), and 5 probes for SOX10 (covering all exons).

Tissue: human genomic DNA.

Application: research on Waardenburg syndrome (WS).

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

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List Prices Documentation

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General information

The SALSA MLPA Probemix P186 PAX3 MITF SOX10 is a research use only (RUO) assay for the detection of deletions or duplications in the PAX3, MITF, and SOX10 genes, which are associated with Waardenburg Syndrome (WS).

Several types of WS can be caused by mutations in the MITF gene (WS2A), the PAX3 gene (WS1 / WS3) or the SOX10 gene (WS2E / WS4C). MITF transactivates the gene for tyrosinase, a key enzyme for melanogenesis, and is critically involved in melanocyte differentiation. Absence of melanocytes affects pigmentation in the skin, hair, and eyes, and hearing function in the cochlea. Therefore, hypopigmentation and hearing loss in WS2A are likely to be the results of an anomaly of melanocyte differentiation caused by MITF mutations. PAX3 and SOX10 regulate MITF, and failure of this regulation due to mutations in these genes results in the auditory-pigmentary symptoms in at least some individuals with WS1 / WS3 (PAX3) or WS2E / WS4C (SOX10).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1531/.

Regulatory status

SALSA MLPA Probemix P186 PAX3-MITF-SOX10 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P186-025R
SALSA MLPA Probemix P186 PAX3-MITF-SOX10 – 25 rxn
MLPA
€ 286.00
P186-050R
SALSA MLPA Probemix P186 PAX3-MITF-SOX10 – 50 rxn
MLPA
€ 560.00
P186-100R
SALSA MLPA Probemix P186 PAX3-MITF-SOX10 – 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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