Polymerase Chain Reaction (PCR), Reverse Transcriptase PCR (RT-PCR)

THE DELTA PATHOLOGY GROUP ADVANTAGE — DIAGNOSTIC EXCELLENCE

Lab3A variety of molecular-based testing is available to assist the physician in the diagnosis and monitoring of patients with genetic disorders. Testing techniques include:  polymerase chain reaction (PCR), Reverse transcriptase PCR (RT-PCR),Oligonucleotide ligation assay (OLA), probe-hybridization assays, sequencing, and fragment length polymorphisms.

Such tests can be used to determine:  inherited genetic abnormalities in hypercoagulable syndromes (i.e. Factor V(Leiden), prothrombin 20210, MTHFR), cystic fibrosis mutations, B- and T-cell clonality in lymphoproliferative syndromes, inherited abnormalities in iron overload disorders (i.e. hereditary hemochromatosis), monitoring following molecularly targeted therapies (i.e. t(9;22 BCR/ABL post-Gleevec), and engraftment status of bone marrow transplant recipients.

PCR ASSAYS

  • Thrombophilia Risk Panel
    – Factor V Leiden (R506Q)
    – Factor II Prothrombin (G20210A)
    – MTHFR (C677T, A1298C)
  • Cystic Fibrosis (ACMG/ACOG) – 23 Mutation Screen
  • BCR/ABL t(9;22) – Quantitative – Major (p210) for CML
  • JAK2 V617F – Quantitative – For non-CML MPN
  • EGFR Mutation Analysis
    – 29 mutations (insertions/deletions)
  • KRAS Mutation Analysis – codons 12,13
  • BRAF Mutation Analysis
    – V600E, V600D, V600K

 

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