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Official Description

ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81175 refers to a comprehensive gene analysis of the ASXL1 gene, which stands for additional sex combs like 1, a transcriptional regulator. This analysis is particularly relevant in the context of certain hematological conditions, including myelodysplastic syndrome (MDS), myeloproliferative neoplasms, and chronic myelomonocytic leukemia (CML). Myeloproliferative disorders are characterized by the abnormal proliferation of blood cells originating from clonal stem cells in the bone marrow. Patients with these conditions may exhibit symptoms such as anemia, neutropenia (a deficiency of neutrophils), and/or thrombocytopenia (a deficiency of platelets). The ASXL1 gene is located on the long (q) arm of chromosome 20 at position 11.21 and plays a crucial role in chromatin remodeling, which is the process of altering the structure of chromatin to regulate gene expression. Chromatin is a complex of DNA and proteins that packages DNA into chromosomes. The remodeling of chromatin can either condense or relax the DNA structure, thereby influencing gene expression levels. When chromatin is densely packed, gene expression is typically repressed, while loosely packed chromatin allows for increased gene expression. The gene analysis performed under this code may be utilized to differentiate the diagnosis of MDS in patients who present with cytopenia but do not show an increase in blast cells in peripheral blood samples. It can also assist in diagnosing MDS when the bone marrow sample is suboptimal or when karyotypic changes are uninformative, along with equivocal morphologic findings. The testing is conducted using next-generation sequencing (NGS) to analyze the full gene sequence, which provides a comprehensive understanding of potential mutations within the ASXL1 gene.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The ASXL1 gene analysis (CPT® Code 81175) is indicated for the following conditions:

  • Myelodysplastic Syndrome (MDS) - This condition is characterized by ineffective hematopoiesis leading to cytopenias and may require genetic analysis for accurate diagnosis.
  • Myeloproliferative Neoplasms - These disorders involve the overproduction of blood cells and can be associated with mutations in the ASXL1 gene.
  • Chronic Myelomonocytic Leukemia (CML) - Genetic testing may assist in the diagnosis and management of this type of leukemia, particularly in the context of ASXL1 mutations.

2. Procedure

The procedure for conducting the ASXL1 gene analysis involves several key steps:

  • Sample Collection - A sample of peripheral blood or bone marrow is obtained from the patient. This step is critical as it provides the biological material needed for genetic analysis. The collection must be performed using standard procedures to ensure the integrity of the sample.
  • Next Generation Sequencing (NGS) - The collected sample undergoes next-generation sequencing, which allows for the comprehensive analysis of the full gene sequence of the ASXL1 gene. This advanced technology enables the detection of mutations that may be present within the gene, providing valuable information for diagnosis and treatment planning.

3. Post-Procedure

After the ASXL1 gene analysis is completed, the results are interpreted by a qualified healthcare professional. The findings can provide critical insights into the patient's condition, guiding further diagnostic and therapeutic decisions. It is essential for healthcare providers to discuss the results with the patient, including the implications of any identified mutations and the potential impact on treatment options. Follow-up care may include additional testing or monitoring based on the results of the gene analysis.

Short Descr ASXL1 FULL GENE SEQUENCE
Medium Descr ASXL1 GENE ANALYSIS FULL GENE SEQUENCE
Long Descr ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) none
MUE 1
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
GW Service not related to the hospice patient's terminal condition
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
59 Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
GZ Item or service expected to be denied as not reasonable and necessary
Date
Action
Notes
2018-01-01 Added Code Added.
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