Division of Human Genetics Diagnostic Laboratories

  • Cytogenetics Laboratory

    Cytogenetics Laboratory banner.

    The Cytogenetics Laboratory combines state-of-the-art techniques with comprehensive interpretation of test results by experienced, board-certified cytogenetics experts. 

    We have been providing quality testing service for more than 40 years to local, regional and national healthcare providers. Our laboratory continues to provide accurate, timely and competitively priced cytogenetic tests for a variety of indications.

    Development of new technology and the latest testing is constantly under way, while we continue to provide routine cytogenetics tests of the highest quality.  

    Our Specialty Services

    Prenatal testing

    Products of conception / fibroblasts

    Oncology testing

    Pediatric / adult testing (constitutional studies) 

    Mouse Cytogenetics Core


    Fanconi anemia testing

    Preimplantation Genetic Screening (PGS)

  • Why Choose Us

    Our Clinical Experts
    Our Experience
    Our Guidance
  • Certified Illumina Service

    We offer microarray service options for multiple sample types: tech only, with data generation, or full service, with data generation and interpretation.

    Read More
  • Diagnostic Tests and Requisitions

    Cytogenetics Laboratory tests.
    Explore Our Cytogenetics Laboratory Test Index
  • Laboratory News

    NEW! Preimplantation Genetic Screening (PGS): Now available at Cincinnati Children’s, PGS aims to improve IVF cycle outcomes for families in Greater Cincinnati.

    Enhanced Multiple Myeloma FISH Panel!: Starting Aug. 1, 2014, the IGH / MAFB t(14;20) dual fusion probe set will become the latest addition to our Multiple Myeloma FISH Panel.

    T-Cell FISH Panel: T-cell leukemia / lymphoma FISH probe set is now available!  This panel includes TRAD (14q11.2) breakapart probe; TRB (7q34) breakapart probe; TRG (7p14) breakapart probe; and t(9;22)(BCR/ABL1) dual fusion probe.  If all findings are normal, test will automatically reflex to MLL (11q23).

    Bloom syndrome: Cincinnati Children’s is excited to announce the launch of Bloom syndrome diagnostic testing by sister chromatic exchange (SCE).

    New FISH probes: New renal cell carcinoma FISH probes are available. TFE3 (Xp11.23) FISH, and if positive, automatically reflexes to ASPSCR1 / PRCC / TFE3 FISH translocation analysis.

    Starting June 17, 2013: Our SNP microarray is now performed using the CytoSNP-850K  BeadChip.  This chip has enriched coverage for 3,262 genes of known cytogenetic relevance.

    Starting Dec. 3, 2012:  We can now perform chromosome breakage analysis for Fanconi anemia on skin or cultured fibroblasts.

    Download: Laboratory Reporting Guidelines

    Now available: FISH analysis of CD138+ cells in multiple myeloma