• Custom Gene Sequencing and Deletion / Duplication Analysis

    Custom gene sequencing and deletion / duplication analysis at Cincinnati Children's.

    Custom Gene Sequencing

    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.

    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 

    > 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. Under the direction of Kejian Zhang, MD, MBA, we provide guidance in:

    • Clinical interpretation, recommendation for follow-up testing and medical management 
    • Genetic counseling
    • Coordination of studies for at-risk family members
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    Download requisition for custom gene sequencing and deletion / duplication analysis.