ZytoLight® SPEC DiGeorge Triple Color Probe

The ZytoLight ® SPEC DiGeorge Triple Color Probe is designed to detect deletions affecting the chromosomal regions 22q11.21 harboring the genes HIRA (a.k.a. TUPLE1) and CRKL as well as 22q11.21-q11.22 harboring the MAPK1 gene. The 22q11.2 deletion syndrome, also known as velocardiofacial syndrome (VCFS) and DiGeorge syndrome, is a genetic disorder caused by hemizygous microdeletions on chromosome 22q11.2, with a population prevalence of about 1 in 4,000 births. The triple color probe targets CRKL that maps to the LCR22C-D region allowing the detection of rare deletions.