ZytoVision introduces its new products for detection of the mycrodeletion syndromes DiGeorge sysndrome

ZytoVision introduces its new products for detection of the mycrodeletion syndromes DiGeorge sysndrome, distal deletion syndrome, and Phelan McDermid syndrome in the ZytoLight portfolio. FISH probes are designed for the detection of microdeletions affecting the genes HRIA, ARSA, CRKL, and SHANK3: ZytoLight DiGeorge Triple Color Probe, and ZytoLight DiGeorge/Phelan McDermid Dual Color Probe.

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.

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ZytoLight ® SPEC DiGeorge/Phelan McDermid Dual Color Probe

The ZytoLight ® SPEC DiGeorge/Phelan McDermid Dual Color Probe is designed to detect deletions affecting the chromosomal regions 22q11.21 harboring the HIRA (a.k.a. TUPLE1) gene and 22q13.33 harboring the SHANK3 gene, respectively. The 22q13.3 deletion syndrome (Phelan McDermid syndrome) typically results from deletions of 100 kb to 9 Mb involving the distal long arm of chromosome 22. Almost all of these deletions include the SHANK 3 gene.

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