CPT® Code 81286

Official Description

FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence

Common Language Description

The CPT® Code 81286 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 distinctive 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 subset, about 2%, may have one gene with expanded repeats and another with a point mutation or deletion. The full gene sequence analysis represented by code 81286 is essential for identifying functional variants by comparing segments of the gene to determine similarities and differences, as well as to identify relationships among genetic markers, including point mutations or single nucleotide polymorphisms.

1. Indications

The FXN (frataxin) gene analysis, represented by CPT® Code 81286, is indicated for the evaluation of individuals suspected of having Friedreich ataxia. The following conditions and symptoms may warrant this genetic testing:

Impaired Balance and Coordination Symptoms may include difficulty maintaining balance and coordination during movement, which can significantly affect daily activities.
Decreased Strength and Sensation Patients may experience reduced strength and sensation in the extremities, leading to challenges in mobility and physical function.
Muscle Stiffness and Spasticity Individuals may present with muscle stiffness and spasticity, which can contribute to discomfort and limit range of motion.
Speech, Hearing, and Visual Impairments The disorder may also lead to difficulties in communication, auditory processing, and visual perception.
Hypertrophic Cardiomyopathy This condition, characterized by thickening of the heart muscle, may be present in affected individuals, necessitating further evaluation.
Diabetes The association of diabetes with Friedreich ataxia may prompt genetic testing to understand the underlying genetic factors.
Scoliosis The development of scoliosis, or curvature of the spine, is another symptom that may indicate the need for FXN gene analysis.

2. Procedure

The procedure for conducting the FXN gene analysis involves several key steps to ensure accurate results. The following outlines the procedural steps:

Step 1: Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample serves as the source of DNA for the analysis.
Step 2: DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material necessary for testing.
Step 3: Full Gene Sequencing The extracted DNA undergoes full gene sequencing of the FXN gene. This process involves analyzing the entire gene to identify any functional variants, including point mutations or single nucleotide polymorphisms.
Step 4: Data Analysis The sequencing data is compared to reference sequences to determine similarities and differences in the gene segments. This analysis helps identify any genetic markers associated with Friedreich ataxia.
Step 5: Reporting Results The results of the analysis are compiled into a report, detailing any identified variants and their potential implications for the patient's health and diagnosis.

3. Post-Procedure

After the FXN gene analysis is completed, patients may receive counseling regarding the results and their implications. It is essential to discuss the findings with a healthcare provider who can interpret the results in the context of the patient's clinical presentation. Follow-up care may include monitoring for symptoms associated with Friedreich ataxia, as well as management strategies for any identified conditions, such as hypertrophic cardiomyopathy or diabetes. Genetic counseling may also be recommended for the patient and their family to understand the hereditary nature of the disorder and the potential for genetic testing in family members.

Short Descr	FXN GENE FULL GENE SEQUENCE
Medium Descr	FXN GENE ANALYSIS FULL GENE SEQUENCE
Long Descr	FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence
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.
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
GA	Waiver of liability statement issued as required by payer policy, individual case
GW	Service not related to the hospice patient's terminal condition
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.
XS	Separate structure, a service that is distinct because it was performed on a separate organ/structure