Deletion/Duplication Analysis

**Semantic type:** Laboratory Procedure

**Definition:** The detection of deletions and/or duplications/amplifications of specific DNA sequences, usually via comparative genomic hybridization (CGH)-based methods. The procedure utilizes probes that can detect and distinguish between deletions and duplications of short internal sequences (i.e. within a single exon) and deletions or duplications/amplifications of whole gene sequences.

**Synonyms:** - Amplification and Deletion Detection - Amplification or Deletion Detection - Del/Dup Analysis - Deletion and Duplication Analysis - Deletion and Duplication Assay - Deletion/Duplication Mutation Analysis