CPT® Code 81316

Official Description

PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative

Common Language Description

The CPT® Code 81316 pertains to the molecular genetic testing specifically designed to analyze the PML/RARalpha translocation, which is a critical genetic alteration associated with promyelocytic leukemia. This test focuses on identifying a single breakpoint within the translocation between the PML gene located on chromosome 15 and the RARalpha gene on chromosome 17. The presence of this translocation is a hallmark of acute promyelocytic leukemia (APL), a subtype of acute myeloid leukemia (AML). In approximately 99% of APL cases, this genetic rearrangement results in the formation of a chimeric fusion gene, which can lead to the production of different isoforms based on the specific breakpoint location. The analysis can be performed qualitatively or quantitatively, allowing for the detection of the fusion transcripts that indicate the presence of the translocation. The test can utilize techniques such as reverse transcription-polymerase chain reaction (RT-PCR) to amplify the RNA extracted from the patient's sample, enabling the identification of either long or short isoforms of the PML/RARalpha fusion gene. The results of this testing are crucial for diagnosing APL, monitoring treatment effectiveness, assessing minimal residual disease (MRD), and predicting potential relapse. The identification of specific breakpoints, such as those found in intron 3, intron 6, or exon 6 of the PML gene, is essential for understanding the genetic landscape of the disease and tailoring appropriate therapeutic strategies.

1. Indications

The PML/RARalpha translocation analysis using CPT® Code 81316 is indicated for the following conditions:

Acute Promyelocytic Leukemia (APL) The test is primarily performed to confirm the diagnosis of APL, which is characterized by the presence of the PML/RARalpha translocation.
Monitoring Treatment Response The analysis is utilized to assess the effectiveness of therapy in patients diagnosed with APL, allowing for adjustments in treatment as necessary.
Minimal Residual Disease (MRD) Assessment The test aids in monitoring for minimal residual disease, helping to determine if any cancer cells remain after treatment.
Predicting Relapse The analysis can be used to predict the likelihood of early relapse in patients previously treated for APL, facilitating timely intervention.

2. Procedure

The procedure for conducting the PML/RARalpha translocation analysis under CPT® Code 81316 involves several key steps:

Sample Collection A sample of the patient's blood or bone marrow is collected to obtain the necessary RNA for testing. This sample serves as the basis for the molecular analysis.
RNA Extraction The RNA is extracted from the collected sample using standardized laboratory techniques to ensure the integrity and quality of the genetic material for subsequent analysis.
Reverse Transcription-Polymerase Chain Reaction (RT-PCR) The extracted RNA undergoes RT-PCR, a technique that converts RNA into complementary DNA (cDNA) and amplifies specific regions of interest. This step is crucial for detecting the PML/RARalpha fusion transcripts.
Breakpoint Analysis The analysis focuses on a single breakpoint within the PML gene, specifically examining regions such as intron 3, intron 6, or exon 6, as well as the single breakpoint on intron 2 of the RARalpha gene. The presence of the fusion gene is determined based on the amplification results.
Control Sample Amplification A control sample of the ABL gene is also amplified during the process to ensure the quality of the RNA and to provide a reference for relative quantification of the PML/RARalpha fusion transcripts.
Result Interpretation The results are interpreted to determine the presence of the PML/RARalpha fusion gene, the length of the isoform (long or short), and the ratio of target (PML/RARalpha) to control (ABL) mRNA. This information is reported as positive or negative, along with quantitative changes if applicable.

3. Post-Procedure

After the PML/RARalpha translocation analysis is completed, the results are reviewed and communicated to the healthcare provider. If the test is positive, the length of the isoform and the ratio of the target to control mRNA will be reported, providing critical information for treatment planning. In cases where therapy effectiveness is being monitored, previously obtained samples may be compared to new samples to assess any quantitative changes over time. This ongoing monitoring is essential for managing the patient's condition and making informed decisions regarding future treatment options. Additionally, healthcare providers may consider the patient's ethnicity, as the frequency of specific breakpoints can vary among different populations, which may influence the interpretation of results and subsequent clinical decisions.

Short Descr	PML/RARALPHA 1 BREAKPOINT
Medium Descr	PML/RARALPHA SINGLE BREAKPOINT QUAL/QUAN
Long Descr	PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative
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)	T1H - Lab tests - other (non-Medicare fee schedule)
MUE	1
CCS Clinical Classification	234 - Pathology

Repeat procedure or service by same physician or other qualified health care professional: it may be necessary to indicate that a procedure or service was repeated by the same physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 76 to the repeated procedure or service. note: this modifier should not be appended to an e/m service.

Repeat procedure by another physician or other qualified health care professional: it may be necessary to indicate that a basic procedure or service was repeated by another physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 77 to the repeated procedure or service. note: this modifier should not be appended to an e/m service.