Summary & Overview
CPT 81289: Targeted Familial Frataxin (FXN) Genetic Test
CPT code 81289 represents a targeted molecular test for specific familial variants in the frataxin gene (FXN). This code is used when a laboratory performs focused genetic analysis to detect known pathogenic or likely pathogenic FXN changes identified in a patient’s family. Such testing supports diagnostic clarification, cascade testing, and reproductive counseling for hereditary conditions linked to FXN variants. Nationally, molecular familial testing is increasingly used to guide care decisions and genetic counseling, and accurate billing for these services is important for laboratory reimbursement and care coordination.
Key payers commonly involved in coverage of hereditary genetic testing include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find benchmarks for utilization and payment guidance where available, summaries of clinical context for familial FXN testing, and descriptions of typical sites of service and service scope. The publication highlights coding considerations specific to targeted familial testing and summarizes the clinical rationale for testing families with known FXN variants. Data not available in the input for payer-specific rates, taxonomies, ICD-10 mappings, and related codes.
Billing Code Overview
CPT code 81289 is a laboratory molecular diagnostic test that detects specific changes in the frataxin gene (FXN) known to occur in a patient’s family. The procedure involves targeted genetic analysis to determine the presence or absence of familial FXN variants associated with hereditary conditions.
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Service type: Targeted familial genetic testing (molecular genetic analysis)
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Typical site of service: Clinical molecular laboratory or hospital outpatient laboratory setting
Clinical & Coding Specifications
Clinical Context
A patient with a family history of Friedreich ataxia or known pathogenic variants in the frataxin gene (FXN) is referred for targeted molecular testing to determine whether they carry the family-specific mutation. Typical patients include an affected proband’s first-degree relative seeking carrier testing, a symptomatic individual with progressive ataxia and neuropathy where prior family testing identified a specific FXN variant, or prenatal/periconception counseling when a familial FXN pathogenic variant is known. The clinical workflow begins with genetic counseling and informed consent, documentation of the specific familial FXN variant to be interrogated, and collection of a blood or buccal DNA sample. The laboratory performs a targeted molecular assay directed at the known family variant(s) in the FXN gene, analyzes results, and issues a technical report. The technical component billed under 81289 covers the laboratory analytic work; if a professional interpretation report is provided separately, that may be billed with an appropriate professional component modifier or separate CPT for interpretation when applicable. Results are returned to the ordering clinician and genetic counselor for communication to the patient, with recommended follow-up based on carrier status or diagnostic findings.
Coding Specifications
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