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Availability of Sanger sequencing for any clinically relevant gene, in a CAP / CLIA-certified diagnostic laboratory, allows many patients to receive a clinically actionable diagnosis that may have important ramifications for their long-term medical management and treatment.
Confirmation of a clinical diagnosis may also reduce or eliminate the need for further diagnostic testing and unnecessary health surveillance.
> Download the test information sheet.
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.
> See a list of genes for which deletion/duplication analysis is currently available.
To discuss custom gene sequencing or targeted deletion and duplication analysis for your patient with a genetic counselor, call 513-636-4474.
Our lab will give you access to unparalleled clinical expertise. Under the direction of Kejian Zhang, MD, MBA, we provide guidance in:
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026 | 1-513-636-4200 | 1-800-344-2462 | TTY: 1-513-636-4900
New to Cincinnati Children’s or live outside of the Tristate area? 1-877-881-8479
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