CPT® Code 81289

Official Description

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s)

Common Language Description

The CPT® Code 81289 pertains to the molecular genetic testing of the FXN (frataxin) gene, which is associated with Friedreich ataxia, a progressive neuromuscular disorder characterized by a range of debilitating symptoms. The FXN gene is located on the long (q) arm of chromosome 9 at position 21.11 (9q21.11) and is responsible for coding a protein that plays a crucial role in iron metabolism, antioxidant protection, and energy production within the body. This protein is distributed throughout various tissues, with the highest concentrations found in the heart, spinal cord, liver, pancreas, and skeletal muscles. Friedreich ataxia manifests through a variety of symptoms, including impaired balance and coordination, decreased strength and sensation in the extremities, muscle stiffness and spasticity, as well as potential speech, hearing, and visual impairments. Additionally, individuals may experience hypertrophic cardiomyopathy, diabetes, and scoliosis. The onset of symptoms typically occurs between the ages of 5 and 15 in approximately 75% of cases, while the remaining 25% may not exhibit symptoms until after the age of 25. The FXN gene features a unique DNA allele characterized by a trinucleotide repeat pattern of three amino acids: glycine, alanine, and alanine (GAA), which usually repeats fewer than 33 times. Normal variations include short normal repeats of fewer than 12 and long normal repeats ranging from 12 to 33. Most individuals affected by Friedreich ataxia possess two homozygous genes with expanded trinucleotide repeats located on intron 1 of the FXN gene. A smaller percentage, about 2%, may have one gene with expanded repeats and another with a point mutation or deletion. The code 81289 specifically reports the analysis of the FXN gene to detect known familial variants, thereby facilitating the identification of at-risk family members when there is a documented family history of Friedreich ataxia. This targeted analysis focuses on specific sites within the FXN gene that have previously been identified as mutated in other family members.

1. Indications

The indications for performing the FXN (frataxin) gene analysis using CPT® Code 81289 include the following:

Family History of Friedreich Ataxia - The procedure is indicated when there is a known family history of Friedreich ataxia, allowing for the identification of at-risk family members through genetic testing.
Known Familial Variants - The analysis is specifically performed to detect known familial variants in the FXN gene that have been previously identified in affected family members.

2. Procedure

The procedure for conducting the FXN gene analysis involves several key steps, which are detailed as follows:

Sample Collection - A biological sample, typically blood or saliva, is collected from the individual being tested. This sample serves as the source of DNA for the genetic analysis.
DNA Extraction - The DNA is extracted from the collected sample using standard laboratory techniques. This process isolates the genetic material necessary for further analysis.
Targeted Gene Analysis - The extracted DNA is subjected to molecular genetic testing that specifically targets the FXN gene. This involves analyzing the gene for known mutations or variants that are associated with Friedreich ataxia.
Variant Detection - The testing focuses on identifying specific known familial variants within the FXN gene. This step is crucial for determining whether the individual carries mutations that could indicate a risk for developing Friedreich ataxia.
Result Interpretation - Once the analysis is complete, the results are interpreted by a qualified healthcare professional. The findings will indicate whether the individual has the familial variant(s) associated with Friedreich ataxia.
Reporting - The results of the genetic analysis are compiled into a report that is provided to the healthcare provider. This report may include recommendations for further testing or counseling for at-risk family members.

3. Post-Procedure

Post-procedure care following the FXN gene analysis typically involves the following considerations:

After the genetic testing is completed, individuals may receive counseling regarding the implications of the test results, especially if a known familial variant is detected. This counseling can help individuals understand their risk of developing Friedreich ataxia and the potential impact on family members. Additionally, healthcare providers may recommend follow-up testing or monitoring for those identified as at risk. It is important for individuals to discuss the results with their healthcare provider to determine any necessary next steps, including lifestyle modifications or further medical evaluations. Overall, the post-procedure phase emphasizes the importance of informed decision-making and support for affected individuals and their families.

Short Descr	FXN GENE KNOWN FAMIL VARIANT
Medium Descr	FXN GENE ANALYSIS KNOWN FAMILIAL VARIANTS
Long Descr	FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s)
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.