General information: 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/.

This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content: The SALSA MLPA Probemix P490-B1 ADA2 contains 22 MLPA probes with amplification products between 151 and 346 nucleotides (nt). This includes 12 probes for the ADA2 gene, covering all exons of the gene. In addition, ten 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.