How To Use CPT Code 81284

CPT 81284 describes the analysis of the frataxin (FXN) gene to detect abnormal alleles, typically associated with expanded sequences. 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 81284?

CPT 81284 can be used to analyze the frataxin (FXN) gene for the presence of abnormal alleles, specifically those involving expanded sequences. This test is typically ordered 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 can also be used to determine carrier status for certain conditions.

2. Official Description

The official description of CPT code 81284 is: ‘FXN (frataxin) (eg, Friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles.’

3. Procedure

1. The lab analyst performs technical steps to analyze the frataxin gene using a specimen, such as blood.
2. The nucleic acids are extracted from the specimen through methods like cell lysis and digestion.
3. The quantity of nucleic acid is increased and stabilized for analysis through amplification techniques, such as polymerase chain reaction (PCR).
4. The target genes, specifically the frataxin gene, are detected to identify the presence of abnormal alleles involving expanded sequences.

4. Qualifying circumstances

CPT 81284 is typically ordered when there is a suspicion of Friedreich ataxia or a need to determine carrier status. It is not limited to testing for a specific condition, but it is commonly used in the diagnosis of FA. The test can be performed by a lab analyst using various specimens, such as blood, and involves analyzing the frataxin gene for the presence of abnormal alleles involving expanded sequences.

5. When to use CPT code 81284

CPT code 81284 should be used when there is a clinical need to analyze the frataxin gene for the detection of abnormal alleles, typically associated with expanded sequences. It is commonly ordered to aid in the diagnosis of Friedreich ataxia or to determine carrier status. This code should not be used for other genetic analyses or sequencing of the frataxin gene.

6. Documentation requirements

To support a claim for CPT 81284, documentation should include:

• Reason for ordering the test, such as suspicion of Friedreich ataxia or need to determine carrier status
• Specimen used for analysis, such as blood
• Details of the technical steps performed, including nucleic acid extraction and amplification
• Results of the analysis, specifically the presence or absence of abnormal alleles involving expanded sequences
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81284, ensure that the test is performed by a lab analyst and that the analysis focuses on the frataxin gene for the detection of abnormal alleles involving expanded sequences. It is important to distinguish this code from other codes related to the FXN gene, such as those for characterization of abnormal alleles or full gene sequence analysis. Additional tips for billing may include reporting separate codes for specimen collection and, if applicable, physician interpretation of the test.

8. Historical information

CPT 81284 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 symptoms of muscle contraction, loss of control of body movements, and speech articulation difficulty undergoes CPT 81284 to aid in the diagnosis of Friedreich ataxia.
2. A couple planning to start a family requests CPT 81284 to determine their carrier status for certain genetic conditions.
3. A physician suspects Friedreich ataxia in a patient and orders CPT 81284 to confirm the diagnosis.
4. A research study requires the analysis of the frataxin gene using CPT 81284 to investigate the prevalence of abnormal alleles in a specific population.
5. A patient with a family history of Friedreich ataxia undergoes CPT 81284 to determine their risk of developing the condition.
6. A genetic counselor recommends CPT 81284 for a patient with symptoms suggestive of a genetic disorder involving the frataxin gene.
7. A patient with unexplained muscle weakness and coordination difficulties undergoes CPT 81284 to investigate potential genetic causes.
8. A physician orders CPT 81284 as part of a comprehensive genetic testing panel to evaluate a patient’s risk for various inherited conditions.
9. A newborn screening program includes CPT 81284 to detect abnormal alleles involving the frataxin gene in infants.
10. A patient with a known family history of Friedreich ataxia undergoes CPT 81284 to monitor the progression of the disease and assess potential treatment options.