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
- BRAF V600E mutation detection to predict response to BRAF targeted therapy and also help in diagnosis and classification for several cancers
- Calreticulin: Aid in diagnosis of JAK2 negative essential thrombocythemia and primary myelofibrosis
- Chimerism: engraftment monitoring after a bone marrow transplant
- EGFR mutation detection: Non-small cell lung cancer
- 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
- IGK gene rearrangement: B cell clonality in malignancies to help diagnosis and monitor treatment
- IGH gene rearrangement: B cell clonality in malignancies to help diagnosis and monitor treatment
- IGHV Mutation: Determine risk group in newly diagnosed CLL
- JAK2 V617F mutation
- KRAS mutation detection to predict response to a chemotherapeutic drug, colon cancer.
- NGS Myeloid Panel (ASXL1, BCOR, BRAF, CBL, CSF3R, DNMT3a, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PHF6, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, USAF1, WT1, ZRSR2)
- Nucleophosmin in Acute Myelogenous Leukemia
- TCRG gene rearrangement: T cell clonality in malignancies to help diagnosis and monitor treatment
- TERT promoter: detection of mutations useful to help in predicting prognosis for glioma and papillary thyroid cancer.
For more information or to request our services, please call Paige Elliott, Laboratory Supervisor, at (585) 275-2709.
To request the development of new tests needed for patient care or research, please email Laboratory Director Paul Rothberg.