Chromosome Region 22q11.2 Deletion and Duplication Analysis in Blood or Tissue by FISH

**Semantic type:** Laboratory Procedure

**Definition:** A fluorescent in situ hybridization-based procedure that detects chromosome region 22q11.2 deletions and/or duplications in a blood or tissue specimen.

**Synonyms:** - Chromosome region 22q11.2 deletion and duplication mutation analysis in Blood or Tissue by FISH