A complete diagnostic program.
Determination of TREC and KREC copy number, enzyme assay for ADA-SCID and confirmatory genetic testing using a single Dried Blood Spot.
Multiple tests are needed to successfully identify potentially affected babies and children:
|Healthy children have an abundance of mature T-Cells. During maturation of these cells, a small piece of circular DNA is released into the blood called a T-Cell Receptor Excision Circle (TREC). TRECs are an excellent indicator of the presence of T-Cells in newborns. In babies affected with SCID, TREC levels are very low, almost undetectable.||Considering SCID is a “combined” immunodeficiency, it is important to evaluate the presence of B-lymphocytes (B-Cells). B-Cells, like T-Cells, release a small piece of circular DNA into the blood during maturation. K-deleting Recombination Excision Circles (KRECs) are an ideal biomarker for the quantification of B-Cells.||ADA-SCID is ultra-rare and caused by a deficiency of the adenosine deaminase (ADA) enzyme and is often fatal if left untreated. ADA is produced in all cells and is most active in lymphocytes. ADA-SCID results from defects in the ADA gene, which reduces or eliminates the activity of the enzyme and increases the risk of severe and recurring infections.|