About

The Molecular Diagnostics Lab is a CLIA and CAP-certified lab offering DNA and RNA based assays for solid tumors and hematologic malignancies. Currently, the lab performs over 6,000 tests a year, mostly for cancer patients. Our tests range from simple PCR amplifications to complex tests translated from cutting-edge research findings to clinical utility. In January 2013, the lab began to provide next generation sequencing panels, and this is the most rapidly expanding function of the lab. The goal is to offer whole exome sequencing and/or whole genome sequencing for cancer patients in the future.

The Cytogenetics Lab offers karyotype analysis and SNP-microarray analysis to detect balanced, unbalanced, and copy number neutral chromosome abnormalities at the whole genome level. The lab also performs fluorescence in-situ hybridization (FISH) analysis to detect targeted chromosome abnormalities. The results from these studies play important roles in cytogenetic diagnosis, prognosis, and guide treatment of specific types of hematologic malignancies and solid tumors.

Johns Hopkins Genomics is a premier center for genetics, genomics, and bioinformatics. It is the clinical genetics lab for all campuses of Johns Hopkins Medicine and one of the world’s largest research genotyping and sequencing centers. A partnership between the McKusick-Nathans Department of Genetic Medicine and the Department of Pathology, Johns Hopkins Genomics was established in 2015 to centralize the latest genomic research, the highest quality clinical testing, and exceptional analytic and interpretive expertise. Our mission is to advance the understanding and treatment of human disease, both inherited and acquired, for our patients and colleagues at Johns Hopkins and beyond.