SALSA MLPA Probemix P490 ADA2 detects copy number variations in the ADA2 gene.
Contents: 22 MLPA probes, including 12 probes for ADA2 (covering all exons).
Tissue: human genomic DNA.
Application: research on deficiency of adenosine deaminase 2 (DADA2).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P490 ADA2 is a research use only (RUO) assay for the detection of deletions or duplications in the ADA2 gene, which is associated with Deficiency of Adenosine Deaminase 2 (DADA2).
DADA2 is a rare autosomal recessive genetic disease, caused by defects in the adenosine deaminase 2 (ADA2, also known as CECR1) gene. Symptoms include systemic inflammation, vasculitis, early-onset ischemic strokes and immune deficiency. ADA2 controls the level of extracellular adenosine and thereby signalling through adenosine receptors. ADA2 influences differentiation of macrophages and is thought to have growth factor activity (Meyts and Aksentijevich 2018).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK544951/.
SALSA MLPA Probemix P490 ADA2 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.
The commercially available positive samples below can be used with the current (B1) version of this product.