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Molecular Pathology

Molecular DNA analysis provides critical information used to identify inherited gene mutations associated with genetic disorders and acquired gene rearrangements associated with cancer cell populations. The molecular detection of acquired gene rearrangements ahs become an important tool impacting the nature of diagnosis, classification and treatment of patients with leukemias and lymphomas.

The combined use of techniques such as cell surface marker analysis and gene rearrangement assays help to resolve critical questions in making the differential diagnosis between lymphoma and benign lymphoproliferative disease, in establishing T or B-cell lineage, in deciding between recurrent tumor vs. new primary, and in detection of minimal residual disease.
As a complement to our comprehensive karyo/immunophenotyping capabilities, we specialize in the use of specific DNA probes clinically useful for the confirmation of T and B-cell lineage and for the determination of the clonality of cell proliferation.

The PSF Molecular Pathology Lab also offers testing for constitutional gene mutations associated with several genetic disorders including hemochromatosis, certain hypercoagulation disorders and cystic fibrosis.

All final reports are telephoned or faxed as soon as they become available. Abnormalities are verbally transmitted to the referring physician. A full, interpretive written report is then mailed. Our professional staff is available at any time for further consultation.

Services Offered

  • Molecular Oncology-Polymerase chain reaction (PCR)
  • BCL1 (Cyclin D1/IGH fusion) (e.g. Mantle Cell Lymphoma)
  • BCL2 (BCL2/IGH fusion) (e.g. Follicular Lymphoma)
  • Monoclonal T-cell TCR-gamma rearrangements
  • Monoclonal B-cell IGH rearrangements
  • Molecular Genetics-Hemochromatosis (PCR) (3 mutations)
  • Hypercoagulation Mutation Testing (Invader Assay)
  • Factor V (Leiden)
  • Prothrombin 20210
  • Methylenetetrahydrofolate Reductase (MTHFR)
  • Cystic Fibrosis carrier screening (25 mutations / Invader Assay)

 

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