Proximal 22q Deletion
Introducing a new diagnostic method for 22q11.2 deletions
TAI Diagnostics is offering a new test for 22q11.2 deletion syndrome, available to physicians now. Our methodology is highly accurate, sensitive, and specific for two target loci, TBX1 and CRKL.
22q11.2 deletion syndrome, also known as DiGeorge (DGS) or velo-cardio-facial syndrome (VCFS), is a genetic disorder caused by a deletion from chromosome 22 at the q11 location. It is one of the most frequent chromosomal defects found in newborns, causing developmental delay and a spectrum of physical findings including heart abnormalities, cleft palate, and immune deficiency. Early diagnosis is important for treatment of the disorder. Clinical phenotypic features may be subtle or absent in newborns, making molecular testing an important diagnostic adjunct.