PDGFRA Targeted Gene Analysis with Interpretation
Label Mnemonic: PDGFRA
Epic Lab Code: LAB8146
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Tissue
Formalin fixed, paraffin embedded tissue block or 1 H&E with 10 unstained slides 5-10 micron-thick on uncharged slides at 20-25°C.
Minimum:
Specimen requires 20% or greater tumor cell content. Submit 1 H&E with 10 unstained 6 micron-thick sections on non-charged slides or formalin- fixed, paraffin-embedded tissue block.
Rejection Criteria:
Specimens fixed in B5 fixative or that have been decalcified will not be accepted. Tumor specimens containing less than 20% tumor cells or are less than 10mm2 in area may be unacceptable.
Delivery Instructions:
Testing is generally not available on a STAT basis. However, expedited testing can be arranged by contacting the Molecular Pathology Laboratory at 384-9568 or the Molecular Genetic Pathology Fellow (pager #8682).
Testing Schedule:
0800-1700 Testing offered once per week excluding weekends and University holidays.
Turn Around Time:
7-10 working days
Reference Range:
Negative
Comments:
The platelet derived growth factor receptor alpha (PDGFRA) belongs to a family of receptor tyrosine kinases (RTKs). The binding of ligands, such as platelet derived growth factor (PDGF), induces a conformational change that facilitates receptor homo- or heterodimer formation, thereby resulting in activation of PDGFRA tyrosine kinase activity. Activated PDGFRA then phosphorylates its substrates, resulting in activation of multiple downstream pathways within the cell, including the PI3K-AKT-mTOR pathway, which is involved in cell survival, and the RAS-RAF-MEK-ERK pathway, which is involved in cell proliferation.

Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers. For example, mutations are found in gastrointestinal stromal tumors (GIST; Corless et al. 2005; Heinrich et al. 2003).
Methodology:
Massively parallel Next Generation DNA sequencing by synthesis, semiconductor technology, Ion Personal Genomics Machine.
CPT Code:
81314