Clinical Laboratory Services

Molecular Diagnostics

The Molecular Diagnostics Laboratory provides specialized, high-complexity testing that is not readily available in most hospitals. The laboratory is divided into three 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.

Molecular Virology measures the abundance of viral genomes and analyzes the viral genomes for predictors of response to specific therapies.

Services

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.

Genetics:

  • 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)
  • CLN3 common deletion (Batten disease)

Oncology:

  • 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)

Virology:

  • Cytomegalovirus viral load (monitored frequently in transplant patients)
  • EBV viral load (monitored frequently in transplant patients)
  • HIV viral load (used to monitor treatment effectiveness)
  • HCV viral load (used to monitor treatment effectiveness for Hepatitis C infection)
  • HBV viral load (used to monitor treatment effectiveness for Hepatitis B infection)
  • HCV genotyping (used to predict length of treatment for Hepatitis C infection)

Our Team

Contact Us

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 send an email to Laboratory Director Paul Rothberg: paul_rothberg@urmc.rochester.edu