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
- Factor V Leiden mutation: risk factor for developing blood clots
- Prothrombin (Factor II) 3’UTR (c.*97G>A) mutation: risk factor for developing blood clots
- Hereditary hemochromatosis (HFE) mutation: risk factor for developing iron overload
Oncology
Single Gene/Fusion Transcript Analysis
- BCR-ABL1 (p210) analysis by quantitative PCR: diagnosis and monitoring of chronic myeloid leukemia (CML) and a subset of acute lymphoblastic leukemia (ALL)
- BRAF V600 hotspot mutation (Idylla): diagnostic and predictive biomarker for several cancers, including cutaneous melanoma.
- CALR mutation (by PCR): aids in the diagnosis of JAK2-negative essential thrombocytosis and primary myelofibrosis
- FLT3 internal tandem duplication (ITD) mutation: prognostic and predictive biomarker for targeted therapy in acute myeloid leukemia
- FLT3 codon 835/836 mutation: predictive biomarker for targeted therapy in acute myeloid leukemia
- JAK2 V617F mutation (by allele-specific PCR): aids in the diagnosis of myeloproliferative neoplasms
Targeted Next Generation Sequencing (NGS) Panels
- 50-gene CLL / Myeloid NGS panel: ABL1, ANKRD26, ASXL1, BCOR, BCORL1, BRAF, CALR, CBL, CEBPA, CSF3R, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, HRAS, IDH1, IDH2, IKZF1, JAK2, KIT, KRAS, MPL, MYD88, NF1, NPM1, NRAS, PHF6, PPM1D, PTPN11, RAD21, RB1, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, STAT3, TET2, TP53, U2AF1, UBA1, WT1, ZRSR2
- 45-gene Solid Tumor NGS panel: AKT1, AKT2, AKT3, ALK, AR, ARAF, BRAF, CDK4, CDKN2A, CHEK2, CTNNB1, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, PTEN, RAF1, RET, ROS1, SMO, TP53
Other Tests
- Bone marrow transplant (BMT) engraftment analysis: Detects genetic differences between recipient and donor prior to BMT; monitoring bone marrow engraftment status after BMT.
- Lung Cancer Gene Fusion Panel: Qualitative detection of specific gene fusions for ALK, ROS1, and RET, as well as MET exon 14 skipping and 3'-5' expression imbalance for ALK, ROS1, and RET. The Idylla GeneFusion Assay was optimized using FFPE tissue from non-small cell lung cancer (NSCLC).
Our Team
Allison J. Cox, Ph.D., Assistant Professor, Director of Germline Diagnostics, Interim Director of Molecular Diagnostics, and Associate Director of the Cytogenetics Laboratory
Audrey Jajosky, M.D., Ph.D., Assistant Professor & Associate Director of Molecular Diagnostics
Zoltan Oltvai, M.D., Professor & Associate Director of Molecular Diagnostics
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 Interim Laboratory Director Allison Cox.