DNA Methyltransferase 3A Mutations

Specimen Collection, Storage, and Shipping

Test Information:

Mutations in the DNMT3A gene are found in a variety of hematologic malignancies including adult de novo normal karyotype AML, MDS, and T cell acute lymphoblastic leukemia/lymphoma (T-ALL) [1]. DNMT3A mutations appear mutually exclusive with several translocations including t(15;17) PML-RARA, inv(16) CBFB-MYH11, t(8;21) RUNX1-RUNX1T1, KMT2A (MLL) rearrangements, but may be co-mutated with NPM1, FLT3-ITD, IDH1 and IDH2 [1, 2]. Many studies have shown that mutations of DNMT3A appear to be stable during clonal evolution and mutation persistence is associated with poor prognosis [1]. This assay detects the most frequent mutations reported in DNMT3A, which reside in codon 882, using PCR amplification followed by pyrosequencing. The sensitivity cut-off for this assay is approximately 5% mutant DNA relative to normal DNA.

Requisition Code:

DNA methyltransferase 3A (DNMT3A)

CPT Code:

81403; G0452-26

Turn Around Time:

5-7 days

Specimen Requirements:

Collect:           Peripheral blood: 2-5 mL in EDTA (purple top) tube

                        Bone marrow: 2-5 mL in ACD (yellow top) or EDTA (purple top) tube

Storage:         Room temperature


Transport:      See Standard Shipping Procedures

  1. Yang L, Rau R, Goodell MA. DNMT3A in haematological malignancies. Nat Rev Cancer. 2015 Mar;15(3):152-65. doi: 10.1038/nrc3895. Epub 2015 Feb 19.
  2. Comprehensive Cancer Network. Acute Myeloid Leukemia (Version 2.2016). http://www.nccn.org/professionals/physician_gls/pdf/aml.pdf. Accessed Nov 22, 2016.