How To Use CPT Code 81289

CPT 81289 describes the analysis of the frataxin gene (FXN) to detect specific changes in the gene that are known to occur in the patient’s family. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, similar codes and billing examples.

1. What is CPT Code 81289?

CPT 81289 can be used to analyze the frataxin gene (FXN) for the presence of specific changes that are known to occur in the patient’s family. This test helps in the diagnosis of conditions such as Friedreich ataxia (FA) and determining carrier status. The test involves performing technical lab steps to detect these known familial variants in the FXN gene.

2. Official Description

The official description of CPT code 81289 is: ‘FXN (frataxin) (eg, Friedreich ataxia) gene analysis; known familial variant(s).’ This code specifically involves analyzing the known familial variants in the FXN gene.

3. Procedure

1. The lab analyst performs technical lab steps to analyze the frataxin gene (FXN) for the presence of known familial variants.
2. The lab test involves extracting nucleic acids from a specimen, such as blood, using methods like cell lysis and digestion.
3. The quantity of nucleic acid is increased and stabilized for analysis by amplification techniques like polymerase chain reaction (PCR).
4. The target genes, specifically the known familial variants in the FXN gene, are detected.

4. Qualifying circumstances

CPT 81289 is commonly ordered by clinicians to aid in the diagnosis of Friedreich ataxia (FA), a heritable disease characterized by muscle contraction, loss of control of body movements, speech articulation difficulty, sensory loss, and other symptoms. It is also used to determine carrier status. The test is performed when there is a suspicion of these conditions and when there is a known familial variant in the FXN gene.

5. When to use CPT code 81289

CPT code 81289 should be used when there is a need to analyze the frataxin gene (FXN) for known familial variants. It is appropriate to use this code when there is a suspicion of Friedreich ataxia (FA) or when determining carrier status. This code should not be used for other genetic analyses or when testing for different conditions.

6. Documentation requirements

To support a claim for CPT 81289, the documentation should include:

• Reason for ordering the test, such as suspicion of Friedreich ataxia or determination of carrier status
• Details of the technical lab steps performed, including specimen used, extraction methods, amplification techniques, and detection of known familial variants
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81289, ensure that the test is performed to analyze the known familial variants in the FXN gene. It is important to distinguish this code from other CPT-listed tests for the FXN gene, such as detection of abnormal alleles, characterization of abnormal alleles, and full gene sequence analysis. Additional codes may be reported for specimen collection or physician interpretation, if applicable.

8. Historical information

CPT 81289 was added to the Current Procedural Terminology system on January 1, 2019. There have been no updates to the code since its addition.

9. Examples

1. A patient with a family history of Friedreich ataxia undergoes CPT 81289 to analyze the known familial variants in the FXN gene.
2. A clinician orders CPT 81289 to determine carrier status in an individual with suspected genetic involvement in their condition.
3. A patient with symptoms of Friedreich ataxia undergoes CPT 81289 to confirm the presence of known familial variants in the FXN gene.
4. A family undergoes CPT 81289 to identify the presence of known familial variants in the FXN gene for genetic counseling purposes.
5. A research study utilizes CPT 81289 to analyze the known familial variants in the FXN gene in a population with a high prevalence of Friedreich ataxia.
6. An individual with a family history of Friedreich ataxia undergoes CPT 81289 as part of a preconception genetic screening.
7. A clinician orders CPT 81289 to analyze the known familial variants in the FXN gene in a patient with unexplained neurological symptoms.
8. A patient with a family history of Friedreich ataxia undergoes CPT 81289 to determine their risk of developing the condition.
9. A clinician orders CPT 81289 to analyze the known familial variants in the FXN gene in a patient with suspected hereditary spastic paraplegia.
10. A patient with symptoms of Friedreich ataxia undergoes CPT 81289 to identify the presence of known familial variants in the FXN gene for treatment planning.