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Molecular Diagnostics Laboratory

About the Lab

The Molecular Diagnostics Laboratory is responsible for the development and performance of molecular diagnostic tests for nucleic acid targets found in a variety of settings in medicine. We offer a wide array of tests at the forefront of molecular diagnostics and precision medicine. The three broad areas of testing we provide are:

  • Hematopathology
  • Coagulation
  • Genetics

Services & Tests

Hematopathology is a main focus of our lab with testing performed in genetic analysis of hematologic malignancies for diagnosis and therapeutic decision-making, coagulation genetics, and evaluation of stem-cell transplant patients. We also perform several additional genetic tests including hemochromatosis and cystic fibrosis screens for adults and in conjunction with the prenatal laboratory for newborns.

A listing of our testing can be found here.

Other department laboratories perform molecular testing for microorganisms. The Clinical Virology Laboratory tests for multiple viral pathogens, whereas the Clinical Microbiology Laboratory tests for M. tuberculosis, C. trachomatis, and N. gonorrhoeae. The Molecular Diagnostics Laboratory supports the Clinical Microbiology Laboratory by performing a bacterial whole genome Next-Generation Sequencing assay to determine the relative genetic relatedness of pure bacterial isolates.

Faculty

  • Professor of Laboratory Medicine; Hematopathology Fellowship Director, Laboratory Medicine; Director, Molecular Diagnostics Laboratory, Laboratory Medicine; Director, Flow Cytometry, Laboratory Medicine; Associate Director, Hematology Laboratory, Laboratory Medicine

  • Professor of Laboratory Medicine and of Medicine (Hematology); Vice Chair for Clinical Affairs, Laboratory Medicine; Associate Director, Yale Pathology Residency Program; Director, Clinical Hematology Laboratory

  • Professor of Laboratory Medicine, of Biomedical Engineering, of Medicine (Hematology) and of Pediatrics; Deputy Dean for Research, (Clinical and Translational); Director, Clinical Immunology Laboratory, Laboratory Medicine; Chair, Laboratory Medicine; Chief, Laboratory Medicine

  • Professor of Laboratory Medicine; Director, Transfusion Medicine Service, Laboratory Medicine; Director, Transfusion Medicine Fellowship, Laboratory Medicine