How To Use CPT Code 81258

CPT 81258 describes the genetic analysis procedure for detecting specific changes in the alpha globin 1 and alpha globin 2 (HBA1/HBA) genes, which are associated with alpha thalassemia and some structural hemoglobinopathies. 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 81258?

CPT 81258 is a genetic analysis procedure that focuses on detecting specific changes in the alpha globin 1 and alpha globin 2 (HBA1/HBA) genes. These genes are associated with conditions such as alpha thalassemia and some structural hemoglobinopathies. The test targets genetic variants known to occur in the patient’s family, providing valuable information for genetic counseling and evaluating symptomatic patients with a family history of these conditions.

2. Official Description

The official description of CPT code 81258 is: ‘HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; known familial variant.’

3. Procedure

1. The lab analyst performs the technical steps of the genetic analysis procedure, starting with the extraction of nucleic acids from a specimen such as blood.
2. The lab analyst then amplifies and stabilizes the quantity of nucleic acid for analysis, using methods like polymerase chain reaction (PCR) or transcription of DNA to RNA and reverse transcription from RNA to make additional copies of the DNA.
3. The target genes, HBA1 and HBA2, are detected using methods such as nucleic acid probes.
4. The analysis specifically focuses on known familial variants in the HBA1/HBA2 genes, which are associated with alpha thalassemia and some structural hemoglobinopathies.

4. Qualifying circumstances

CPT 81258 is typically ordered for genetic counseling or to evaluate symptomatic patients with a family history of alpha thalassemia or structural hemoglobinopathies. These conditions are characterized by decreased production of normal hemoglobin or changes in the structure and function of hemoglobin. The variants in the HBA1/HBA2 genes occur with varying frequency in different ethnic populations, which may impact the interpretation of test results.

5. When to use CPT code 81258

CPT code 81258 should be used when performing genetic analysis to detect known familial variants in the HBA1/HBA2 genes. This code is appropriate for cases where there is a specific need to identify these variants in patients with a family history of alpha thalassemia or structural hemoglobinopathies. It is important to note that CPT code 81258 is not limited to testing for a specific condition but is commonly used for genetic counseling and evaluating symptomatic patients.

6. Documentation requirements

To support a claim for CPT code 81258, the following documentation is required:

• Indication of the need for genetic analysis and the patient’s family history
• Details of the specific variants being tested for in the HBA1/HBA2 genes
• Date and time of the procedure
• Methodology used for the analysis, such as PCR or nucleic acid probes
• Results of the analysis and interpretation
• Signature of the lab analyst performing the procedure

7. Billing guidelines

When billing for CPT code 81258, it is important to ensure that the procedure is performed for known familial variants in the HBA1/HBA2 genes. Additionally, consider reporting separate codes for specimen collection, if applicable. It is crucial to accurately distinguish between the different codes in the HBA1/HBA2 genetic testing code family, including codes for common deletions or variants, full gene sequence analysis, and duplication deletion analysis.

8. Historical information

CPT code 81258 was added to the Current Procedural Terminology system on January 1, 2018. There have been no updates to the code since its addition.

9. Examples

1. A patient with a family history of alpha thalassemia undergoes genetic analysis using CPT code 81258 to detect known familial variants in the HBA1/HBA2 genes.
2. A symptomatic individual with a relative who has a known mutation in the HBA1/HBA2 genes undergoes genetic analysis using CPT code 81258 to determine if they carry the same variant.
3. A genetic counselor orders CPT code 81258 for a patient seeking information about their risk of developing alpha thalassemia based on their family history.
4. A physician orders genetic analysis using CPT code 81258 to confirm a suspected diagnosis of a structural hemoglobinopathy in a patient with relevant symptoms and a family history of the condition.
5. A laboratory performs genetic analysis using CPT code 81258 to identify known familial variants in the HBA1/HBA2 genes for a patient undergoing preconception counseling.
6. A patient with a family history of alpha thalassemia undergoes genetic analysis using CPT code 81258 to determine their carrier status for the known familial variants.
7. A symptomatic individual with a relative diagnosed with a structural hemoglobinopathy undergoes genetic analysis using CPT code 81258 to identify the specific variant causing their symptoms.
8. A genetic counselor orders CPT code 81258 for a patient with a family history of alpha thalassemia to assess their risk of passing on the condition to future generations.
9. A physician orders genetic analysis using CPT code 81258 to investigate the cause of anemia in a patient with symptoms suggestive of alpha thalassemia.