targeted-duplication-deletion

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 

> See a list of genes for which deletion / duplication analysis is currently available

> Download the test information sheet.

Contact Us

To discuss custom gene sequencing or targeted deletion and duplication analysis for your patient with a genetic counselor, call 513-636-4474.

Why Choose Us? 

Our lab will give you access to unparalleled clinical expertise. We provide guidance in: 

  • Clinical interpretation, recommendation for follow-up testing and medical management  
  • Genetic counseling 
  • Coordination of studies for at-risk family members