Targeted Deletion and Duplication Analysis by CGH
Single-gene deletion / duplication testing through comparative genomic hybridization (CGH) is designed to detect relatively small deletions and duplications within a single exon of a given gene or deletions and duplications encompassing the entire gene. These genetic changes may be clinically relevant but are otherwise not identifiable through Sanger sequencing or next-generation sequencing.
This test is appropriate for the following indications:
- As a reflex test for patients with a suspected autosomal dominant or X-linked disorder after full sequencing of the associated gene(s) is negative
- As a reflex test for patients with a suspected autosomal recessive disorder after full sequencing of the associated gene(s) is negative or initially identifies only one sequence change, or when one or more amplicons fail PCR amplification
- As an initial test when deletions or duplications in the gene associated with the suspected disorder are more prevalent than point mutations
