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
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