CPT® Code 81204

Official Description

AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status)

Common Language Description

The CPT® Code 81204 pertains to the molecular genetic testing of the AR (androgen receptor) gene, which is crucial for identifying mutations associated with various conditions, including androgen inactivation syndrome, spinal and bulbar muscular dystrophy, Kennedy disease, androgenetic alopecia, and polycystic ovarian syndrome. The AR gene is situated on the long (q) arm of the X chromosome at position 12 (Xq12) and plays a vital role in the development of male characteristics by encoding a protein that binds to androgen hormones, such as testosterone. This binding process is essential for regulating the development of male traits during both gestation and puberty. The normal function of the AR gene involves a specific trinucleotide repeat of CAG (cytosine-adenine-guanine), which typically ranges from fewer than 10 to about 36 repeats. However, in conditions like spinal and bulbar muscular dystrophy, the number of CAG repeats can increase significantly, ranging from 38 to over 60. This increase is associated with symptoms such as progressive muscle wasting, gynecomastia, testicular atrophy, and fertility issues, predominantly affecting males aged 30 to 60. Mutations in the AR gene can lead to androgen insensitivity syndrome, which results in male feminization due to various genetic alterations, including single base pair changes or insertions and deletions of multiple base pairs. Additionally, in androgenetic alopecia, mutations typically involve minor changes in the base pairs, leading to characteristic hair loss in both males and females. Women with alterations in the AR gene may also experience symptoms of polycystic ovarian syndrome, such as hirsutism, acne, and fertility challenges. The code 81204 specifically reports on the characterization of alleles, including expanded size or methylation status, providing essential insights into these genetic conditions.

1. Indications

The AR (androgen receptor) gene analysis using CPT® Code 81204 is indicated for the following conditions:

Androgen Inactivation Syndrome - A condition where the body is unable to respond to androgens, leading to various developmental issues.
Spinal and Bulbar Muscular Dystrophy - A neuromuscular disorder characterized by progressive muscle wasting, particularly affecting muscles close to the trunk and those of the face and throat.
Kennedy Disease - A genetic disorder that affects motor neurons, leading to muscle weakness and atrophy.
Androgenetic Alopecia - A common form of hair loss in both men and women associated with genetic factors affecting the AR gene.
Polycystic Ovarian Syndrome (PCOS) - A hormonal disorder in women that can lead to symptoms such as hirsutism, acne, and fertility issues.

2. Procedure

The procedure for CPT® Code 81204 involves several key steps to analyze the AR gene for mutations and variations:

Sample Collection - A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis.
DNA Extraction - The DNA is extracted from the collected sample using standardized laboratory techniques to ensure purity and integrity for testing.
Genetic Analysis - The extracted DNA undergoes molecular genetic testing to identify specific mutations in the AR gene. This includes characterization of alleles, focusing on aspects such as expanded size or methylation status.
Data Interpretation - The results of the genetic analysis are interpreted by qualified professionals to determine the presence of mutations and their potential implications for the patient's health.
Reporting - A comprehensive report is generated, detailing the findings of the AR gene analysis, which is then provided to the healthcare provider for further clinical decision-making.

3. Post-Procedure

After the AR gene analysis is completed, the patient may receive counseling based on the results. This may include discussions about the implications of any identified mutations, potential health risks, and options for management or treatment. Follow-up appointments may be scheduled to address any concerns and to discuss further testing or interventions if necessary. It is also important for healthcare providers to consider the psychological impact of genetic testing results on patients and their families, providing appropriate support and resources.

Short Descr	AR GENE CHARAC ALLELES
Medium Descr	AR GENE ANALYSIS CHARACTERIZATION OF ALLELES
Long Descr	AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status)
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