• Molecular Genetics Laboratory News

    Follow Us

    Twitter.Follow us on Twitter for the latest news, information and updates.

    Meet Us at CIS

    Houston.Visit us at the Clinical Immunology Society 2015 Annual Meeting, April 9-11, in booth 315.

    Longitudinal Pediatric Data Resource

    Cincinnati Children’s Receives Award for Newborn Screening Data Resource

    Job Posting

    Join our team! Learn more about our genetic counselor (Molecular Lab) opportunity.

    New Expanded Bone Marrow Failure Syndromes Panel (59 genes)

    Bone Marrow Failure Syndromes panel.Our Expanded Bone Marrow Failure Syndromes panel is specifically designed to diagnose the most common genetic causes of bone marrow failure including dyskeratosis congenita, Diamond Blackfan anemia, Fanconi anemia, familial bone marrow failure, Shwachman Diamond syndrome and congenital amegakaryocytic thrombocytopenia, as well as inherited causes of neutropenia. Inherited bone marrow failure syndromes account for approximately 25 percent of pediatric patients and about 10 percent of young adult patients who present with aplastic anemia.

    Download test information | Download requisition

    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.