KIT D816X
Unique Identifier:
ML-H024
Name on Requisition:
KIT D816X
Product Line:
HEME
Panel Group:
PCR
Methodology
Molecular
PCR
Test Description and clinical significance
Genes
KIT D816X
Disease:
systemic mastocytosis and other myeloid neoplasms.
KIT encodes a receptor tyrosine kinase that regulates cell growth and survival. Mutations at codon D816 (including D816V and other variants, collectively referred to as D816X) lead to constitutive activation of the receptor and are strongly associated with systemic mastocytosis and other myeloid neoplasms. Detection of KIT D816X mutations provides diagnostic confirmation, prognostic information, and may inform therapeutic decisions, as these variants often confer resistance to certain tyrosine kinase inhibitors. This assay specifically detects mutations at codon 816 of KIT.
Specimen Requirements
Preparation:
PB, BM
Collection:
At least 0.5 ml EDTA, citrate (ACD) or Heparinized whole blood or bone marrow aspirates for DNA mutations
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
Blood or bone marrow specimens should be kept at room temperature and preferably received within 96 hrs of drawing. Samples that are 4 to 7 days old should be refrigerated. Sufficient quantity of previously extracted DNA is acceptable if stored at appropriate temperature (short term at 2–8oC or long term at -15 to -25 oC) and should be transported on ice.
CPT(s)
81273
TAT
5
Requisition Type
Heme
Levels of Service
Full
DexS Code
NONE
Prefix
MI
*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.
