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SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK

Lymphoproliferative syndrome

Region: SH2D1A Xq25; XIAP Xq25; ITK 5q33.3

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/.

Probemix content

The SALSA MLPA Probemix P205-B2 SH2D1A-XIAP-ITK contains 39 MLPA probes with amplification products between 129 and 432 nucleotides (nt). This includes eight probes for the SH2D1A gene, two probes for all four exons, seven probes for the XIAP gene, one probe for each exon, and 16 probes for the ITK gene, one probe for each exon with the exception of exon 17. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Online available downloads

Other versions

Contact us for earlier versions.

Order Items

Probemix

Item no.
Description
Technology
Price
P205-025R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 25 rxn
€ 286.00
P205-050R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 50 rxn
€ 560.00
P205-100R
SALSA MLPA Probemix P205 SH2D1A-XIAP-ITK – 100 rxn
€ 1096.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6152.00

Related Products

SALSA MLPA Probemix P028 FHL

Contains probes for the PRF1, STX11 and UNC13D genes, involved in Hemophagocytic lymphohistiocytosis (HLH).

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