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Official Description

RUNX1 (runt related transcription factor 1) (eg, acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy) gene analysis, targeted sequence analysis (eg, exons 3-8)

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81334 pertains to the analysis of the RUNX1 gene, which is crucial for understanding certain hematological conditions, particularly acute myeloid leukemia (AML) and familial platelet disorder (FPD) with associated myeloid malignancy. The RUNX1 gene encodes a transcription factor that plays a significant role in the maturation of blood cells, including white blood cells, red blood cells, and platelets. This gene functions by binding to specific DNA regions to activate genes necessary for blood cell development. The RUNX1 protein works in conjunction with another protein known as core binding factor beta (CBFβ), which is produced by the CBFB gene, to form a complex called core binding factor (CBF). Mutations in the RUNX1 gene can lead to severe hematological disorders. One of the most prevalent mutations involves a translocation between chromosome 21 (RUNX1) and chromosome 8 (RUNX1T1 or ETO), resulting in the formation of the RUNX1-ETO fusion protein. This fusion protein binds to DNA but inhibits the activation of genes, thereby obstructing the normal maturation and differentiation of blood cells. Consequently, this leads to an accumulation of abnormal, immature white blood cells, known as myeloid blast cells, which is characteristic of acute myeloid leukemia. The symptoms associated with AML and FPD may include fever, bone pain, fatigue, dyspnea, pale skin, frequent infections, and unusual bruising or bleeding. To perform the RUNX1 gene analysis, a blood or bone marrow sample is collected, which is a separate procedure. The analysis itself employs Bi-directional Sanger sequencing to examine the targeted exons of the RUNX1 gene, specifically exons 3 through 8, to identify any mutations that may be present.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The RUNX1 gene analysis (CPT® Code 81334) is indicated for the evaluation of specific hematological conditions, particularly:

  • Acute Myeloid Leukemia (AML) - A type of cancer that affects the blood and bone marrow, characterized by the rapid proliferation of abnormal myeloid cells.
  • Familial Platelet Disorder (FPD) with Associated Myeloid Malignancy - A genetic condition that affects platelet production and function, which may lead to an increased risk of developing myeloid malignancies.

2. Procedure

The procedure for RUNX1 gene analysis involves several critical steps to ensure accurate identification of mutations within the gene:

  • Step 1: Sample Collection - A blood or bone marrow sample is obtained from the patient. This step is essential as it provides the necessary biological material for genetic analysis. The collection must be performed in a sterile manner to prevent contamination and ensure the integrity of the sample.
  • Step 2: DNA Extraction - Once the sample is collected, DNA is extracted from the cells present in the blood or bone marrow. This process involves breaking down the cell membranes and isolating the DNA, which will be the target for sequencing.
  • Step 3: Targeted Sequence Analysis - The extracted DNA undergoes Bi-directional Sanger sequencing, focusing specifically on exons 3 through 8 of the RUNX1 gene. This targeted approach allows for the identification of mutations that may be implicated in the patient's hematological condition.
  • Step 4: Data Interpretation - After sequencing, the results are analyzed to determine the presence of any mutations in the RUNX1 gene. This interpretation is crucial for diagnosing conditions such as AML and FPD and for guiding further clinical management.

3. Post-Procedure

Post-procedure care following the RUNX1 gene analysis primarily involves monitoring the patient for any potential complications related to the sample collection, such as bleeding or infection at the site of the blood draw or bone marrow aspiration. The results of the gene analysis will typically be reviewed in conjunction with the patient's clinical history and other diagnostic tests. It is important for healthcare providers to discuss the findings with the patient, including the implications of any identified mutations and the potential impact on treatment options and prognosis. Follow-up appointments may be necessary to evaluate the patient's condition and adjust treatment plans based on the genetic findings.

Short Descr RUNX1 GENE TARGETED SEQ ALYS
Medium Descr RUNX1 GENE ANALYSIS TARGETED SEQUENCE ANALYSIS
Long Descr RUNX1 (runt related transcription factor 1) (eg, acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy) gene analysis, targeted sequence analysis (eg, exons 3-8)
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.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
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
GA Waiver of liability statement issued as required by payer policy, individual case
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.
99 Multiple modifiers: under certain circumstances 2 or more modifiers may be necessary to completely delineate a service. in such situations modifier 99 should be added to the basic procedure, and other applicable modifiers may be listed as part of the description of the service.
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
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2019-01-01 Changed Code description changed.
2018-01-01 Added Code Added.
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