The Clinical Cytogenetics Laboratory is a comprehensive cytogenetics and molecular cytogenetics laboratory specializing in both constitutional and acquired disorders. Technologies utilized in the laboratory include conventional chromosome analysis (karyotyping), fluorescence in situ hybridization (FISH), and microarray. The laboratory also offers a small number of disease-specific molecular assays to complement the other components of our portfolio, including targeted Sanger sequencing, methylation analysis, and PCR for the detection of Y-chromosome microdeletions. The Clinical Cytogenetics Laboratory is accredited by both CAP and CLIA and is staffed by cytogenetic technologists who are certified by the American Society for Clinical Pathology (ASCP). Reporting and interpretation are performed by faculty cytogeneticists who are board-certified through the American Board of Medical Genetics and Genomics (ABMGG).

Broadly, testing in the Clinical Cytogenetics Laboratory can be divided into three categories: prenatal and pregnancy loss, postnatal (constitutional), and oncology. As such, the laboratory processes a wide range of specimens, including amniotic fluids, chorionic villi samples, peripheral bloods, bone marrows, lymph nodes, solid tumors, buccal swabs, and paraffin-embedded tissues. The FISH testing menu is comprised of over 100 available probes, including indication-specific panels that have been designed to target both diagnostic and prognostic markers across a wide variety of diseases. In-house development of rare and/or custom FISH probes is also available. The laboratory testing services are streamlined through the use of automation for harvesting of cultures, processing of paraffin-embedded tissues, extracting of DNA, and scanning of slides, and sophisticated computer software supports analysis across the laboratory.

Inquiries or questions related to cytogenetics can be directed to Bhavana J. Dave, PhD, FACMG.