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P098 Wilson disease

SALSA MLPA Probemix P098 Wilson disease detects copy number variations of the ATP7B gene.

Specifications

Contents: 41 MLPA probes, including 33 probes for ATP7B of which 5 probes detect the wild-type sequences of the c.2333G>T (R778L), c.2621C>T (A874V), c.3207C>A (H1069Q), c.3809A>G (N1270S) and c.-441_427del15 (15BP-DEL) mutations.

Tissue: human genomic DNA.

Application: research on Wilson disease.

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

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List Prices Documentation

Key related products

P104 Menkes ATP7A

Menkes disease (MD). Contains probes that target the ATP7A gene.

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General information

The SALSA MLPA Probemix P098 Wilson disease is a research use only (RUO) assay for the detection of deletions or duplications in the ATP7B gene, which is associated with Wilson disease. This probemix can also be used to detect the presence of the R778L (c.2333G>T), A874V (c.2621C>T), H1069Q (c.3207C>A) and N1270S (c.3809A>G) point mutations, and the c.-441_427del15 mutation (15BP-DEL).

Wilson disease is an autosomal recessive disorder characterised by dramatic build-up of intracellular copper. Clinical features include liver disease, neurological problems and psychiatric disturbance. Wilson disease is mainly caused by missense mutations and small deletions and insertions in the ATP7B gene (Bandmann et al. 2015). The gene product is a member of the P-type cation transport ATPase family and plays an important role in transporting copper from the liver to other parts of the body (Bandmann et al. 2015). Wilson disease-causing mutations have a reduced penetrance and, although it was believed that the birth genetic prevalence of this disease is about 1:30000, new studies with different methodologies have estimated a significantly higher prevalence, of about 1:7000 (Gao et al. 2019).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1512/.

Regulatory status

SALSA MLPA Probemix P098 Wilson disease is for research use only (RUO) in all territories.

Product documentation

Version E1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P098-025R
SALSA MLPA Probemix P098 Wilson disease – 25 rxn
MLPA
€ 296.00
P098-050R
SALSA MLPA Probemix P098 Wilson disease – 50 rxn
MLPA
€ 580.00
P098-100R
SALSA MLPA Probemix P098 Wilson disease – 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.

The commercially available positive samples below can be used with the current (E1) version of this product.

Resources

General MLPA resources

MLPA education

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