Deletion/Duplication Analysis

Deletion/duplication analysis is a technique used to look for the presence of missing (deletion) or extra (duplication) regions of DNA within a specific gene.

Introduction 

Deletion/duplication analysis is a technique used to look for the presence of missing (deletion) or extra (duplication) regions of DNA within a specific gene.

Deletion/duplication analysis looks for the presence of areas within a gene that are deleted or duplicated, as determined by copy number. This type of analysis can be achieved by chromosomal microarray or multiplex ligation-dependent probe amplification (MLPA) methods. Deletion/duplication analysis is essential to several applications relevant to clinical genetics, such as confirming a diagnosis or carrier status. Many genetic changes can only be detected by deletion/duplication analysis, and would be missed by DNA sequencing alone.

At Ambry, gross deletion/duplication analysis is performed by targeted, custom microarray or by specific MLPA kits developed by MRC Holland.