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Alternative Name
ASXL1 Gene Sequencing
Test Description

ASXL1 mutation analysis is performed by next-generation sequencing of all coding exons of the ASXL1 gene.

Clinical Significance

ASXL1 is an epigenetic regulator of gene expression. ASXL1 gene mutations are detected in approximately 45% of chronic myelomonocytic leukemia (CMML), 11% of acute myeloid leukemia (AML), 34% of primary myelofibrosis (PMF), 4% of polycythemia vera (PV) and essential thrombocythemia (ET), and 14% of myelodysplastic syndromes (MDS). Mutations in ASXL1 are generally associated with aggressive disease and poor clinical outcome in these conditions. Mutations are also detected at low frequency (<5%) in a wide variety of solid tumors.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
  • FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
New York Approved
Level of Service
Turnaround Time

14 days

  1. Gangat N, Patnaik MM, Tefferi A. Myelodysplastic syndromes: Contemporary review and how we treat. Am J Hematol. 2016;91:76–89.
  2. Gelsi-Boyer V, Brecqueville M, Devillier R et al. Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases. J Hematol Oncol. 2012;5:12. doi:10.1186/1756-8722-5-12
  3. ASXL1 tissue distribution page. COSMIC website. Accessed December 28, 2018.

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.