CPT® Code 81176

Official Description

ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (eg, exon 12)

Common Language Description

The CPT® Code 81176 refers to the gene analysis of the ASXL1 (additional sex combs like 1) gene, which is a transcriptional regulator. This analysis is particularly relevant for conditions such as 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 disorders may exhibit symptoms such as anemia, neutropenia (a decrease in neutrophils), and/or thrombocytopenia (a decrease in platelets). The gene analysis performed under this code is crucial for the differential diagnosis of MDS, especially in cases where patients present with cytopenia but do not show an increase in blast cells in peripheral blood samples. It is also useful in diagnosing MDS when the bone marrow sample is suboptimal or when karyotypic changes are uninformative, along with equivocal morphologic findings. The ASXL1 gene is located on the long (q) arm of chromosome 20 at position 11.21 and encodes a protein that plays a significant role in chromatin remodeling. Chromatin is the complex of DNA and proteins that forms chromosomes, and its remodeling can influence gene expression. When chromatin is densely packed, gene expression is repressed, whereas loosely packed chromatin allows for increased gene expression. The analysis involves obtaining a sample of peripheral blood or bone marrow, which is performed as a separate procedure. The testing utilizes next-generation sequencing (NGS) to analyze the full gene or targeted sequencing specifically for exon 12.

1. Indications

Myelodysplastic Syndrome (MDS) Gene analysis may be performed to identify mutations in the ASXL1 gene associated with MDS, which is characterized by ineffective hematopoiesis leading to cytopenias.
Myeloproliferative Neoplasms This analysis is indicated for patients with myeloproliferative neoplasms, which involve the overproduction of blood cells due to clonal stem cell proliferation.
Chronic Myelomonocytic Leukemia (CML) The ASXL1 gene analysis can assist in the diagnosis of CML, a type of cancer that affects the blood and bone marrow.
Cytopenia without Increased Blast Cells The test is useful for diagnosing MDS in patients presenting with cytopenia but without an increase in blast cells in peripheral blood samples.
Suboptimal Bone Marrow Samples It is indicated for cases where the bone marrow sample is suboptimal or when karyotypic changes are uninformative, along with equivocal morphologic findings.

2. Procedure

Sample Collection A sample of peripheral blood or bone marrow is obtained from the patient. This step is crucial as it provides the biological material needed for the gene analysis. The collection is performed as a separate procedure, ensuring that the sample is suitable for subsequent testing.
Next-Generation Sequencing (NGS) The collected sample undergoes next-generation sequencing (NGS) to analyze the ASXL1 gene. This advanced sequencing technology allows for a comprehensive examination of the gene, identifying any mutations that may be present.
Targeted Sequencing of Exon 12 In addition to full gene analysis, targeted sequencing specifically focuses on exon 12 of the ASXL1 gene. This targeted approach is particularly relevant for detecting mutations that are known to be associated with the aforementioned hematological conditions.

3. Post-Procedure

After the gene analysis is completed, the results are interpreted by a qualified healthcare professional. The findings can provide critical information for diagnosing and managing conditions such as MDS, myeloproliferative neoplasms, and CML. Depending on the results, further clinical decisions may be made regarding treatment options and patient management. It is important for healthcare providers to discuss the implications of the test results with the patient, including potential treatment pathways and the significance of any identified mutations.

Short Descr	ASXL1 GENE TARGET SEQ ALYS
Medium Descr	ASXL1 GENE ANALYSIS TARGETED SEQ ANALYSIS
Long Descr	ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (eg, exon 12)
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