CPT® Code 81171

Official Description

AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles

Common Language Description

The CPT® Code 81171 pertains to the molecular genetic testing of the AFF2 gene, which is also known as the AF4/FMR2 family, member 2 (FMR2) gene. This analysis is specifically designed to evaluate and detect abnormal alleles, particularly those that are expanded, which are associated with fragile X intellectual disability 2 (FRAXE). The procedure is crucial for identifying mutations that can lead to fragile X mental retardation syndrome, a condition characterized by a range of developmental issues including developmental delays, autism spectrum disorder (ASD), intellectual disabilities, learning difficulties, communication deficits, attention problems, and hyperactivity. The AFF2 gene is located on the long arm of the X chromosome at position Xq28 and plays a significant role in coding a protein that regulates mRNA blueprints necessary for protein binding within the cell nucleus. In individuals with fragile X mental retardation, there is a notable mutation 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 can reveal various statuses of the CGG repeats, including normal, intermediate, pre-mutation (carrier), and full mutation, with normal ranges typically falling between 4 to 40 repeats, while FRAXE conditions usually exhibit greater than 200 repeats. The code 81171 is specifically utilized to report the evaluation of the AFF2 gene to detect these abnormal, expanded alleles.

1. Indications

The molecular genetic testing for the AFF2 gene analysis (CPT® Code 81171) is indicated for the following conditions:

Developmental Delays The procedure is performed to investigate the underlying genetic causes of developmental delays in individuals, which may be linked to fragile X mental retardation syndrome.
Autism Spectrum Disorder (ASD) Testing may be indicated for individuals diagnosed with ASD, as genetic factors, including mutations in the AFF2 gene, can contribute to the condition.
Intellectual Disabilities The analysis is relevant for individuals exhibiting intellectual disabilities, helping to determine if a genetic mutation is present.
Learning Difficulties The procedure can assist in identifying genetic causes of learning difficulties, particularly when fragile X syndrome is suspected.
Communication Deficits Testing may be warranted for individuals with significant communication challenges, as these can be associated with genetic conditions like FRAXE.
Attention Problems and Hyperactivity The analysis is also indicated for individuals experiencing attention problems or hyperactivity, which may be linked to genetic factors.

2. Procedure

The procedure for AFF2 gene analysis involves several key steps to ensure accurate detection of abnormal alleles:

Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample contains the DNA necessary for genetic analysis.
DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for testing.
Amplification of Target Region Polymerase chain reaction (PCR) is employed to amplify the specific region of the AFF2 gene that contains the CGG repeats. This step is crucial for obtaining sufficient quantities of DNA for analysis.
Analysis of CGG Repeats The amplified DNA is then analyzed to determine the number of CGG repeats present in the AFF2 gene. This analysis helps classify the genetic status as normal, intermediate, pre-mutation, or full mutation.
Interpretation of Results The results are interpreted by a qualified geneticist or laboratory professional, who will assess the findings and determine if any abnormal alleles are present.
Reporting Finally, a detailed report is generated, summarizing the findings of the AFF2 gene analysis, including the classification of the CGG repeat status.

3. Post-Procedure

After the AFF2 gene analysis is completed, patients may receive counseling regarding the results, especially if abnormal alleles are detected. Genetic counseling is essential to discuss the implications of the findings, potential risks for family members, and available support resources. Follow-up testing or additional evaluations may be recommended based on the results. It is also important for healthcare providers to document the findings and any recommendations made during the counseling session for future reference and care planning.

Short Descr	AFF2 GEN ALY DETC ABNL ALLEL
Medium Descr	AFF2 GENE ANALYSIS EVAL DETECT ABNORMAL ALLELES
Long Descr	AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles
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.
GW	Service not related to the hospice patient's terminal condition
XS	Separate structure, a service that is distinct because it was performed on a separate organ/structure
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service