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.