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P205 SH2D1A-XIAP-ITK

SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK detects copy number variations in the SH2D1A, XIAP and ITK genes.

Specifications

Contents: 39 MLPA probes, including 8 probes for SH2D1A (covering all exons), 7 probes for XIAP (covering all exons), and 16 probes for ITK.

Tissue: human genomic DNA.

Application: research on X-linked lymphoproliferative syndrome (XLP; Duncan disease).

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

General information

The SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK is a research use only (RUO) assay for the detection of deletions or duplications in the SH2D1A, XIAP, and ITK genes, which are associated with Duncan disease.

X-linked lymphoproliferative syndrome (XLP or Duncan disease) is a primary immunodeficiency characterised by severe immune dysregulation, often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype with symptoms such as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Mutations in the SH2D1A (XLP1) and XIAP (XLP2) genes on chromosome X are the cause of this disorder. More recently, defects in the IL-2 inducible T cell kinase (ITK) gene on chromosome 5 are identified as a cause for an autosomal EBV-associated lymphoproliferative syndrome. It shows a similar, but not identical phenotype to XLP.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1406/.

Regulatory status

SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK is for research use only (RUO) in all territories.

List prices

Product

Item no.
Description
Technology
Price
P205-025R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 25 rxn
€ 296.00
P205-050R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 50 rxn
€ 580.00
P205-100R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 100 rxn
€ 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)
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 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.

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.

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