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P388 AGS

SALSA MLPA Probemix P388 AGS detects copy number variations in the TREX1, RNASEH2B, RNASEH2C, RNASEH2A and SAMHD1 genes.

Specifications

Contents: 48 MLPA probes, including 2 probes for TREX1, 11 probes for RNASEH2B, 4 probes for RNASEH2C, 7 probes for RNASEH2A, and 16 probes for SAMHD1.

Tissue: human genomic DNA.

Application: research on Aicardi-Goutières Syndrome (AGS).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P388 AGS is a research use only (RUO) assay for the detection of deletions or duplications in the TREX1, RNASEH2B, RNASEH2C, RNASEH2A, and SAMHD1 genes, which are associated with Aicardi-Goutières Syndrome (AGS).

AGS is a genetically determined encephalopathy, characterised by calcification of the basal ganglia and white matter, demyelination and raised levels of lymphocytes in the cerebrospinal fluid. AGS is a heterogeneous disorder. To date mutations in several genes are linked to AGS, including TREX1, RNASEH2B, RNASEH2C, RNASEH2A, and SAMHD1. These are known as AGS1, AGS2, AGS3, AGS4 and AGS5, respectively. More recently, two additional genes (ADAR1 and IFIH1) have been described in AGS patients. Probes for these genes are not present in this probemix.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1475/.

Regulatory status

SALSA MLPA Probemix P388 AGS is for research use only (RUO) in all territories.

Product documentation

Version A2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P388-025R
SALSA MLPA Probemix P388 AGS – 25 rxn
MLPA
€ 296.00
P388-050R
SALSA MLPA Probemix P388 AGS – 50 rxn
MLPA
€ 580.00
P388-100R
SALSA MLPA Probemix P388 AGS – 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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