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P330 PCDH19

SALSA MLPA Probemix P330 PCDH19 detects copy number variations in the PCDH19 gene.

Specifications

Contents: 39 MLPA probes, including 14 probes for PCDH19.

Tissue: human genomic DNA.

Application: research on developmental and epileptic encephalopathy 9 (DEE9, also known as EIEE9 and EFMR).

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 P330 PCDH19 is a research use only (RUO) assay for the detection of deletions or duplications in the protocadherin-19 gene (PCDH19), which is associated with developmental and epileptic encephalopathy 9 (DEE9), also known as EIEE9 and EFMR.

DEE9 is characterised by seizure with onset in infancy or early childhood and cognitive impairment. Additional features include delayed development of variable severity, autistic signs and psychosis. Despite an X-linked mode of inheritance, which usually affects male carriers, this disease is restricted to females. This is probably due to a mechanism called cellular interference (Niazi et al. 2019). PCDH19 is subject to X-chromosome inactivation, which leads to a homogeneous population of cells negative for PCDH19 in males. In heterozygous females, on the other hand, the presence of both PCDH19-positive and PCDH19-negative cells affects the communication between the cells and leads to DEE9.

The PCDH19 gene (6 exons) spans ~119 kb of genomic DNA and is located on chromosome Xq22.1, ~99 Mb from the p-telomere.

Regulatory status

SALSA MLPA Probemix P330 PCDH19 is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P330-025R
SALSA MLPA Probemix P330 PCDH19 – 25 rxn
MLPA
€ 286.00
P330-050R
SALSA MLPA Probemix P330 PCDH19 – 50 rxn
MLPA
€ 560.00
P330-100R
SALSA MLPA Probemix P330 PCDH19 – 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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