How To Use CPT Code 81178

CPT 81178 describes the analysis of the ATXN1 gene to detect abnormal alleles, specifically expanded sequences, which may indicate conditions such as spinocerebellar ataxia. 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 81178?

CPT 81178 can be used to analyze the ATXN1 gene for the presence of abnormal alleles, particularly expanded sequences. This test is often ordered by clinicians to aid in the diagnosis of spinocerebellar ataxia 1 (SCA1), a heritable disease characterized by coordination difficulties in movements such as gait, hand, speech, and eye movements. The test can also be used to determine carrier status for certain conditions.

2. Official Description

The official description of CPT code 81178 is: ‘ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles.’

3. Procedure

1. The lab analyst performs technical steps to analyze the ATXN1 gene using a specimen, typically blood.
2. The process involves extracting nucleic acids from the specimen through methods like cell lysis and digestion.
3. The lab analyst then amplifies and stabilizes the quantity of nucleic acid for analysis using techniques like polymerase chain reaction (PCR).
4. The target genes, specifically the ATXN1 gene, are detected and evaluated for the presence of abnormal alleles, particularly expanded sequences.

4. Qualifying circumstances

CPT 81178 is typically ordered for patients suspected of having spinocerebellar ataxia or those who require carrier status determination. The test analyzes the ATXN1 gene for expanded alleles, which are often associated with conditions such as SCA1. It is important to note that this test is not limited to a specific condition and can be used for other genetic analyses involving the ATXN1 gene.

5. When to use CPT code 81178

CPT code 81178 should be used when there is a clinical need to analyze the ATXN1 gene for the presence of abnormal alleles, particularly expanded sequences. It is commonly ordered to aid in the diagnosis of spinocerebellar ataxia or to determine carrier status. This code should be used when performing the specific analysis of the ATXN1 gene, and not for other genetic tests related to different forms of spinocerebellar ataxia or other genes.

6. Documentation requirements

To support a claim for CPT 81178, the documentation should include:

• Reason for ordering the test, such as suspicion of spinocerebellar ataxia or carrier status determination
• Details of the technical steps performed, including specimen type and extraction methods
• Information on the amplification and stabilization of nucleic acids for analysis
• Results of the analysis, specifically the presence or absence of abnormal alleles, expanded sequences, or other relevant findings
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81178, ensure that the test is performed to analyze the ATXN1 gene for abnormal alleles, particularly expanded sequences. It is important to distinguish this test from other genetic tests related to different forms of spinocerebellar ataxia or other genes. Additional codes may be reported for specimen collection or physician interpretation, if applicable.

8. Historical information

CPT 81178 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 suspected of having spinocerebellar ataxia undergoes the analysis of the ATXN1 gene to detect abnormal alleles.
2. A clinician orders the analysis of the ATXN1 gene to determine carrier status for a patient with a family history of spinocerebellar ataxia.
3. A laboratory performs the analysis of the ATXN1 gene for a research study investigating the prevalence of expanded alleles in a specific population.
4. A patient with unexplained coordination difficulties undergoes the analysis of the ATXN1 gene to aid in the diagnosis of a potential genetic disorder.
5. A clinician orders the analysis of the ATXN1 gene for a patient with a known family history of spinocerebellar ataxia to assess their risk of developing the condition.
6. A laboratory performs the analysis of the ATXN1 gene to confirm the presence of expanded alleles in a patient previously diagnosed with spinocerebellar ataxia.
7. A clinician orders the analysis of the ATXN1 gene for a patient with atypical symptoms to rule out spinocerebellar ataxia as a potential cause.
8. A research study includes the analysis of the ATXN1 gene as part of a comprehensive genetic analysis panel for various neurological disorders.
9. A patient with a family history of spinocerebellar ataxia undergoes the analysis of the ATXN1 gene to determine their carrier status and assess their risk of passing the condition to future generations.
10. A laboratory performs the analysis of the ATXN1 gene for a patient participating in a clinical trial investigating potential treatments for spinocerebellar ataxia.