THE DELTA PATHOLOGY GROUP ADVANTAGE — DIAGNOSTIC EXCELLENCE
A 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.
- 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