CPT® Code 81172

Official Description

AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status)

Common Language Description

The CPT® Code 81172 pertains to the molecular genetic testing of the AFF2 gene, which is also known as the AF4/FMR2 family, member 2 (FMR2) gene. This testing is specifically designed to characterize alleles associated with fragile X intellectual disability 2 (FRAXE). The procedure involves analyzing the gene for mutations that can lead to various developmental and cognitive challenges, including developmental delays, autism spectrum disorder (ASD), intellectual disabilities, learning difficulties, communication deficits, attention problems, and hyperactivity. The AFF2 gene is situated on the long arm of the X chromosome at position Xq28 and plays a crucial role in the regulation of mRNA, which is essential for protein synthesis within the cell nucleus. The fragile X mental retardation mutation is characterized by an expansion of the CGG (cytosine-guanine-guanine) trinucleotide repeats within the AFF2 gene, which results in the silencing of gene expression. The analysis performed under this code can reveal different classifications of CGG repeat numbers, including normal, intermediate, pre-mutation (carrier), and full mutation. Normal CGG repeat counts range from 4 to 40, while individuals with FRAXE typically exhibit repeat counts exceeding 200. It is important to note that while CPT® Code 81171 is used for the detection of abnormal, expanded alleles, CPT® Code 81172 specifically focuses on the characterization of these alleles, including their expanded size and methylation status, providing critical information for diagnosis and management of associated conditions.

1. Indications

The molecular genetic testing for the AFF2 gene is indicated for the following conditions:

Developmental Delays The presence of significant delays in reaching developmental milestones, which may warrant further genetic investigation.
Autism Spectrum Disorder (ASD) Individuals exhibiting symptoms consistent with ASD may undergo testing to identify potential genetic contributions.
Intellectual Disabilities Testing may be performed in cases of unexplained intellectual disabilities to determine if a genetic mutation is present.
Learning Difficulties Children or adults with persistent learning challenges may be evaluated for genetic factors, including mutations in the AFF2 gene.
Communication Deficits Individuals with significant difficulties in communication may be assessed for genetic abnormalities that could be contributing to their condition.
Attention Problems Testing may be indicated for those experiencing attention-related issues, particularly when other causes have been ruled out.
Hyperactivity Individuals displaying hyperactive behaviors may be evaluated for genetic factors, including those related to the AFF2 gene.

2. Procedure

The procedure for CPT® Code 81172 involves several key steps to ensure accurate characterization of the AFF2 gene alleles:

Sample Collection A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis. This sample serves as the basis for the genetic testing.
DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques. This step is crucial for isolating the genetic material needed for further analysis.
Amplification of Target Regions Polymerase chain reaction (PCR) is employed to amplify the specific regions of the AFF2 gene that contain the CGG repeats. This amplification is necessary to ensure that there is sufficient DNA for accurate testing.
Characterization of Alleles The amplified DNA is then analyzed to characterize the alleles present. This includes determining the size of the CGG repeats and assessing the methylation status, which can influence gene expression.
Data Interpretation The results of the analysis are interpreted by a qualified geneticist or laboratory professional. They will classify the findings as normal, intermediate, pre-mutation, or full mutation based on the number of CGG repeats identified.
Reporting A comprehensive report is generated, detailing the findings of the genetic analysis, including the characterization of alleles and any relevant clinical implications. This report is then provided to the referring physician for further evaluation and management.

3. Post-Procedure

After the completion of the genetic testing for the AFF2 gene, patients may receive counseling regarding the results. If a mutation is identified, genetic counseling is recommended to discuss the implications for the patient and their family, including potential risks for future offspring. Follow-up appointments may be necessary to address any questions or concerns regarding the findings and to explore further diagnostic or therapeutic options. Additionally, healthcare providers may consider the results in the context of the patient's overall clinical picture to guide management and support services.

Short Descr	AFF2 GEN ALYS CHARAC ALLELES
Medium Descr	AFF2 GENE ANALYSIS CHARACTERIZATION OF ALLELES
Long Descr	AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and 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

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.
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