Division of Human Genetics Diagnostic Laboratories

  • Molecular Genetics Laboratory News

    Meet Us at NASPHGAN

    Atlanta.Visit us at booth 404 at the NASPHGAN annual meeting, Oct. 23-26, at the Hilton Atlanta.

    Follow us on Twitter for updates.

    Epidermolysis Bullosa Panel

    EBSeq.The Cincinnati Children’s Epidermolysis Bullosa (EB) Center and the Molecular Genetics Laboratory have partnered to develop a next-generation sequencing (NGS) panel that analyzes 21 genes associated with all subtypes of EB, including EB simplex, junctional EB, dystrophic EB and Kindler syndrome.
    Download test sheetDownload requisition

    Targeted Deletion / Duplication Analysis

    Custom gene sequencing.Our CAP / CLIA-certified diagnostic laboratory now provides targeted deletion / duplication analysis by comparative genomic hybridization (CGH).

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

    Comprehensive Testing for Thrombotic Microangiopathy (aHUS and TTP)   

    TMA testing.In conjunction with the Cancer and Blood Diseases Institute and Nephrology Clinical Laboratories, we now offer comprehensive testing for thrombotic microangiopathy (aHUS and TTP) including aHUS Genetic Susceptibility Panel, ADAMTS13 testing, TMA profile and HUS complement Activation Panel.

    Whole Exome Sequencing    

    ExomeSeq.We now offer whole exome sequencing for patients with complex phenotypes for which single gene tests or gene panels are not available or cost effective.

  • Seeking Candidate for Lab Position

    Our lab is seeking qualified applicants for an assistant professor / laboratory director position. Please visit the careers section of our website and refer to job No. 63248.