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

Clonality Analysis

• B-cell clonality (IgH gene rearrangement): aids in the diagnosis and monitoring of B-cell lymphoproliferative disorders and in differentiating malignant from reactive lymphoid processes
• B-cell clonality (IgK gene rearrangement): aids in the diagnosis and monitoring of B-cell lymphoproliferative disorders and in differentiating malignant from reactive lymphoid processes
• T-cell clonality (TCRG gene rearrangement): aids in the diagnosis of T-cell lymphoproliferative disorders

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

• 34-gene CLL / Myeloid NGS 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, TP53, USAF1, WT1, ZRSR2
• 35-gene Solid Tumor NGS panel: 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

• Bone marrow transplant (BMT) engraftment analysis: detects genetic differences between recipient and donor prior to BMT; monitoring bone marrow engraftment status after BMT
• Microsatellite instability analysis (Idylla): screening for hereditary nonpolyposis colorectal cancer (Lynch syndrome); predictive biomarker for immunotherapy in solid tumors

Our Team

• Zoltan Oltvai, M.D., Laboratory Director
• Audrey Jajosky, M.D., Ph.D., Associate Medical Director
• Allison J. Cox, Ph.D., Associate Medical Director
• Paige Elliott, Laboratory Supervisor

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.

Helpful Links

• Molecular Medicine Patient Resources