DNMT3A Exon 23 Mutational Analysis

DNMT3A Exon 23 Mutational Analysis


DNMT3A belongs to a group of enzymes called DNA methyltransferases (DNMTs) that catalyze the DNA methylation and thereby regulate gene expression. In humans, these proteins are encoded by genes: DNMT1, DNMT3A, and DNMT3B.DNMT3A and DNMT3B catalyze de novo methylation, which establishes the methylation patterns in early embryo, during development, and during embryogeneis. DNMT3A protein contains an N-terminal and a smaller C-terminal part encoded by the DNMT3A gene located at chromosome 2p23. Somatic mutations in DNMT3A are described in AML cases and are shown to have an overall poor survival outcome and a shortened event-free survival. These mutations are classified amongst two major classes: highly recurrent p.R882 mutations (exon 23), and a second class of all other mutations. MDL has developed high resolution melting (HRM) curve analysis to detect any sequence variants in exon 23 of DNMT3A, which includes the highly recurrent p.R882 mutations. All sequence variants/mutations are further confirmed by bi-directional Sanger sequencing.


This test is performed by PCR-based Sanger sequencing of DNA to examine the mutation status of exon 23 of DNMT3A.

Test Parameters:  

This assay will detect mutations present in exon 23 of DNMT3A. The sensitivity of the Sanger sequencing assay is 20% of variant sequence in the background of wild-type sequence.

Turnaround Time:

7-10 days

Sample Requirements:

10 mL peripheral blood, 2-5mL bone marrow aspirate, 5g purified DNA, or 4-10 unstained tissue sections on glass slides along with 1 H&E-stained section.
Please provide a copy of the corresponding pathology report.

CPT Codes:


Additional charges may apply for tissue extraction.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.