PDGFRa Heme Mutation Analysis
Alternative name:
PDGFR Alpha Mutation Analysis
Methodology
Molecular
Test Description and clinical significance
Genes
PDGFRA (eg, exons 12, 18)
Disease:
Idiopathic hypereosinophilic syndrome, Somatic and Familial GIST, dermatofibrosarcoma protuberans, lung adenocarcinoma, glioblastoma multiforme, colon adenocarcinoma, and cutaneous melanoma
Next generation sequencing of gene panel. Commonly mutated in GI tract tumors, PDGFR family genes (mutually exclusive to KIT mutations) are a hallmark of gastrointestinal stromal tumors. Gene fusions involving the PDGFRA kinase domain are highly correlated with eosinophilia, and the WHO classifies myeloid and lymphoid neoplasms with these characteristics as a distinct disorder. Mutations in the 842 region of PDGFRA have been often found to confer resistance to the tyrosine kinase inhibitor, imatinib.
Specimen Requirements
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.
Storage & Transport
received within 96 hours of drawing. Samples that are 4 to 7 days old should be refrigerated.
CPT(s)
81314
New York Approved
NO
TAT
10 Days
*The CPT codes provided are for informational purposes only and are based on AMA guidelines The billing party is solely responsible for correct CPT coding.
