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P309 MTM1

SALSA MLPA Probemix P309 MTM1 detects copy number variations in the MTM1 and MTMR1 genes.

Specifications

Contents: 35 MLPA probes including 14 for MTM1 and 7 probes for MTMR1.

Tissue: human genomic DNA.

Application: research on X-linked myotubular myopathy.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P309 MTM1 is a research use only (RUO) assay for the detection of deletions or duplications in the MTM1 and MTMR1 genes, which are associated with X-linked myotubular myopathy.

X-linked myotubular myopathy, also known as myotubular myopathy, is characterised by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. Defects in the MTM1 gene on chromosome Xq28 are the main cause of X-linked myotubular myopathy. The protein encoded by this gene is myotubularin, a dual-specificity phosphoinositide-3-phosphatase. The MTMR1 gene is located at very short distance from the MTM1 gene. The two genes share a similar genomic structure, suggesting that they originate from an intrachromosomal gene duplication. Deletions including both (or part of) MTM1 and MTMR1 have been described. However, deletion of the MTMR1 gene has little clinical significance during early postnatal life (Zanoteli et al. 2005).

The MTM1 gene (15 exons) spans ~105 kb of genomic DNA and is located on chromosome Xq28, ~150 Mb from the p-telomere. The MTMR1 gene (16 exons) spans ~72 kb of genomic DNA and is also located on chromosome Xq28, 20 kb telomeric to the MTM1 gene.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1432/.

Regulatory status

SALSA MLPA Probemix P309 MTM1 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
P309-025R
SALSA MLPA Probemix P309 MTM1 – 25 rxn
MLPA
€ 296.00
P309-050R
SALSA MLPA Probemix P309 MTM1 – 50 rxn
MLPA
€ 580.00
P309-100R
SALSA MLPA Probemix P309 MTM1 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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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