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
Our laboratory provides an extensive array of tests and can develop assays for additional disease-associated genetic variants.
Genetics
- : risk factor for developing blood clots
- : risk factor for developing blood clots
- : risk factor for developing iron overload
Oncology
Clonality Analysis
- : aids in the diagnosis and monitoring of B-cell lymphoproliferative disorders and in differentiating malignant from reactive lymphoid processes
- : aids in the diagnosis and monitoring of B-cell lymphoproliferative disorders and in differentiating malignant from reactive lymphoid processes
- : aids in the diagnosis of T-cell lymphoproliferative disorders
Single Gene/Fusion Transcript Analysis
- : diagnosis and monitoring of chronic myeloid leukemia (CML) and a subset of acute lymphoblastic leukemia (ALL)
- : diagnostic and predictive biomarker for several cancers, including cutaneous melanoma.
- : aids in the diagnosis of JAK2-negative essential thrombocytosis and primary myelofibrosis
- : prognostic and predictive biomarker for targeted therapy in acute myeloid leukemia
- : predictive biomarker for targeted therapy in acute myeloid leukemia
- : aids in the diagnosis of myeloproliferative neoplasms
Targeted Next Generation Sequencing (NGS) Panels
- : 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, TP53, USAF1, WT1, ZRSR2
- : AKT1, ALK, AR, BRAF, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB4, ESR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, ROS1, SMO
Other Tests
- : detects genetic differences between recipient and donor prior to BMT; monitoring bone marrow engraftment status after BMT
- : screening for hereditary nonpolyposis colorectal cancer (Lynch syndrome); predictive biomarker for immunotherapy in solid tumors
Our Team
Contact Us
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 Zoltan Oltvai.
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