METAPHASE FISH 22Q MICRODELETION-DI-GEORGE SYNDROME

Description

Metaphase FISH (Fluorescence In Situ Hybridization) is a technique used to detect deletions on chromosome 22, specifically at the 22q11.2 region, which are associated with DiGeorge syndrome (also known as 22q11.2 deletion syndrome). This test requires cell culture and, ideally, is performed in conjunction with routine karyotyping.