Genes
PDGFRB

Disease:
Chronic myeloproliferative disorder with eosinophilia, intestinal cancer, skin cancer, stomach cancer, lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, Kosaki Overgrowth Syndrome and Premature Aging Syndrome, Penttinen Type

Next generation sequencing of gene panel. The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia.

Collection:
3 mL of EDTA, citrate (ACD) or Heparinized bone marrow and peripheral blood specimens for RNA gene fusion detection

Stability:
96hours/4 to 7 days refrigerated

Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.