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P104 Menkes ATP7A

SALSA MLPA Probemix P104 Menkes ATP7A detects copy number variations in the ATP7A gene.

Specifications

Contents: 34 MLPA probes, including 24 probes for ATP7A (covering all exons).

Tissue: human genomic DNA.

Application: research on Menkes disease (MD).

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

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List Prices Documentation

Key related products

P098 Wilson disease

Contains probes for the ATP7B gene involved in Wilson disease.

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General information

The SALSA MLPA Probemix P104 Menkes ATP7A is a research use only (RUO) assay for the detection of deletions or duplications in the ATP7A gene, which is associated with Menkes disease (MD).

Menkes disease (MD) is a multi-systemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is an X-linked recessive disorder, and as expected the vast majority of patients are males. MD occurs due to pathogenic variants in the ATP7A gene and the vast majority of ATP7A pathogenic variants are intragenic mutations or partial gene deletions. ATP7A is an energy dependent transmembrane protein, which is involved in delivery of copper to the copper-dependent enzymes and is therefore critical for copper homeostasis. Severely affected MD patients usually die before the third year of life.

The ATP7A gene (23 exons) spans ~140 kb of genomic DNA and is located on chromosome Xq21.1, ~78 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1413/.

Regulatory status

SALSA MLPA Probemix P104 Menkes ATP7A is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P104-025R
SALSA MLPA Probemix P104 Menkes ATP7A – 25 rxn
MLPA
€ 286.00
P104-050R
SALSA MLPA Probemix P104 Menkes ATP7A – 50 rxn
MLPA
€ 560.00
P104-100R
SALSA MLPA Probemix P104 Menkes ATP7A – 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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