DNMT3A Mutation Analysis
Methodology
Molecular
Test Description and clinical significance
Genes
DNMT3A
Disease:
Cytogenetically normal acute myeloid leukemia, T-cell acute lymphoblastic leukemia, Systemic mastocytosis, DNMT3A overgrowth syndrome
Next generation sequencing of gene panel. CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated.
Specimen Requirements
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, 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.
CPT(s)
81403
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.
