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.
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.
- 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
- 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
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 email Laboratory Director Paul Rothberg.