Molecular Diagnostics The Molecular Diagnostics Laboratory provides specialized, high-complexity testing that is not readily available in most hospitals. The laboratory is divided into two areas of specialization: Molecular Genetics provides analysis of DNA variants in the germ line that cause disease or influence the risk of disease. Molecular Oncology provides analysis of mutations that cause cancer. Services The Molecular Diagnostics Laboratory provides an extensive array of tests. We also have the capacity to develop tests for any DNA variant that can cause disease or influence the risk of disease. Genetics: Factor V Leiden mutation detection for a cardiovascular risk factor Prothrombin mutation detection for a cardiovascular risk factor Hemochromatosis mutation detection for a risk factor for iron overload Oncology: KRAS mutation detection to predict response to a chemotherapeutic drug, colon cancer BRAF mutation detection to predict response to a chemotherapeutic drug; colon cancer, melanoma FLT3 ITD prognostic indicator in Acute Myelogenous Leukemia, can be used as a marker to follow treatment FLT3 codon 835/836 mutation in Acute Myelogenous Leukemia, can be used as a marker to follow treatment Nucleophosmin in Acute Myelogenous Leukemia BCR-ABL for Chronic Myelogenous Leukemia JAK2 V617F mutation IgH gene rearrangement: B cell clonality in malignancies to help diagnosis and monitor treatment IgK gene rearrangement: B cell clonality in malignancies to help diagnosis and monitor treatment TCRG gene rearrangement: T cell clonality in malignancies to help diagnosis and monitor treatment EGFR mutation detection: lung carcinoma Chimerism: engraftment monitoring after a bone marrow transplant Calreticulin: Aid in diagnosis of essential thrombocythemia and myleoproliferative neoplasms IGHV Mutation: Determine risk group in newly diagnosed CLL NOTCH1: Prognostic indicator in CLL SF3B1: Found in CLL and MDS TP53: Prognostic indicator and guide to drug therapy Our Team Paul G. Rothberg, Ph.D., Laboratory Director Bonnie Nuccie, Laboratory Supervisor Contact Us For more information or to request our services, please call Bonnie Nuccie, Laboratory Supervisor, at (585) 273-1978. To request the development of new tests needed for patient care or research, please send an email to Laboratory Director Paul Rothberg.