Division Chief, Navid Sadri, MD, PhD
The Division of Genomic and Molecular Pathology at the University Hospitals Cleveland Medical Center (UHCMC) and Case Western Reserve University (CWRU) School of Medicine is a specialized academic clinical unit providing advanced molecular diagnostic services across the University Hospitals Health System (UHHS). Our faculty offer expert consultation on test selection and interpretation to support UHHS physicians and providers. The division drives research and the adoption of cutting-edge genetic and genomic diagnostics.
Cytogenetics
The Cytogenetics Laboratory offers comprehensive chromosome analysis for various specimen types, including prenatal (amniotic fluid, chorionic villi), products of conception, postnatal (peripheral blood, skin fibroblasts), hematology (bone marrow, leukemic blood, lymph nodes), and oncology (solid tumors). The lab also provides Fluorescence in Situ Hybridization (FISH) services for prenatal, postnatal, hematological malignancies, and solid tumors, processing both paraffin and non-paraffin specimens. Additionally, Chromosomal Microarray / Genomic Microarray services are available to detect chromosomal imbalances in postnatal cases, pregnancy losses/products of conception, and hematological malignancies.
Section Medical Director: Shashirekha Shetty, PhD
Constitutional Genetics
Inherited testing performed at UHTL offers a variety of genetic and genomics testing for prenatal carrier screening and diagnosis of constitutional disorders, including Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, and Hereditary Hemochromatosis. Advanced techniques including PCR-based methodologies, multiple ligation-dependent- probe amplification (MLPA), and next-generation sequencing (NGS) analysis, optical genome mapping (OGM) are being utilized.
Section Medical Director: Sara Akhavanfard, MD, PhD, FCAMG
Somatic Genetics
Somatic testing performed at UHTL consist of a variety of assays designed to support medical oncology patients and their providers. Tests offered include next generation sequencing (NGS) panels for the detection of molecular biomarkers including mutations, amplifications, gene fusions, and promoter methylation in solid tumors such as non-small cell lung cancer, colorectal cancer, and breast cancer as well as gene mutations in hematologic conditions such as myeloproliferative neoplasms, myelodysplastic syndromes, acute myeloid leukemia, and chronic lymphocytic leukemia. High-sensitivity NGS testing is also available for minimal residual disease detection in select cases of acute myeloid leukemia, and disease monitoring and treatment resistance testing for chronic myeloid leukemia is available utilizing quantitative real-time PCR and NGS.
Section Medical Director: Jennifer M. Yoest, MD