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P193 NPC1-NPC2-SMPD1

SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 detects copy number variations in the NPC1, NPC2 and SMPD1 genes.

Specifications

Contents: 49 MLPA probes, including 28 probes for NPC1, 5 probes for NPC2, and 6 probes for SMPD1.

Tissue: human genomic DNA.

Application: research on Niemann-Pick diseases.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 is a research use only (RUO) assay for the detection of deletions or duplications in the NPC1, NPC2 and SMPD1 genes, which are associated with Niemann-Pick diseases. This probemix can also be used to detect the presence of the wild type sequences of the NPC1 p.Pro1007Ala (exon 20) and the NPC1 p.Ile1061Thr (exon 21) mutations.

Niemann-Pick diseases are lipid storage disorders that manifest in a wide range of symptoms with varying severity. Characteristic, however, are an accumulation of harmful quantities of lipids in the spleen, liver, lungs, bone marrow and brain. Niemann-Pick diseases are inherited in an autosomal recessive manner. Mutations in the SMPD1 gene (chromosome 11p15.4) cause Niemann-Pick disease types A and B. Niemann-Pick type A occurs in infants and is characterised by hepatosplenomegaly, failure to drive and progressive deterioration of the nervous system. Niemann-Pick type B usually presents in mid-childhood. Signs and symptoms are comparable to Niemann-Pick type A, but are less severe. Moreover, patients often suffer from recurrent lung infections and thrombocytopenia.

Approximately 94% of Niemann-Pick type C cases are caused by mutations in the NPC1 (90%, chromosome 18q11.2) and NPC2 (4%, chromosome 14q24.3) genes. Niemann-Pick type C usually becomes apparent in mid-to-late childhood with onset of ataxia, vertical supranuclear gaze palsy and dementia.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1296/ (Niemann-Pick type C) and https://www.ncbi.nlm.nih.gov/books/NBK1370/ (Niemann-Pick types A and B)

Regulatory status

SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P193-025R
SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 – 25 rxn
MLPA
€ 296.00
P193-050R
SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 – 50 rxn
MLPA
€ 580.00
P193-100R
SALSA MLPA Probemix P193 NPC1-NPC2-SMPD1 – 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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