|FISH Analysis - Sotos Syndrome
||Confirmation of Clinical Diagnosis
This test is probe specific for the NSD1 gene.|
For initial screening we recommend CMA - HR (#8655).
Among those with classic Sotos syndrome, about 50% of individuals of Japanese heritage [Kurotaki et al 2003] and 10% of individuals of non-Japanese heritage have a 5q35 microdeletion that encompasses NSD1 [Tatton-Brown, Douglas, Coleman, Baujat, Cole et al 2005].
||Fluorescent in Situ Hybridization (FISH) Analysis
||Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific