How To Use CPT Code 81269

CPT 81269 describes the genetic analysis procedure for evaluating the presence of duplications and deletions in the alpha globin 1 and alpha globin 2 (HBA1/HBA) genes. 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 81269?

CPT 81269 is a genetic analysis procedure that involves evaluating the patient specimen for duplications and deletions in the alpha globin 1 and alpha globin 2 (HBA1/HBA) genes. This test is used to assess the presence of genetic variants related to alpha thalassemia and certain structural hemoglobinopathies.

2. Official Description

The official description of CPT code 81269 is: ‘HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; duplication/deletion variants.’

3. Procedure

1. The lab analyst collects a patient specimen, typically blood, for analysis.
2. The lab analyst performs a genetic analysis procedure to evaluate the presence of duplications and deletions in the HBA1/HBA2 genes.
3. The analysis may involve methods such as multiplex-ligation-dependent probe amplification (MLPA) to detect duplications and deletions that may not be detected by standard DNA sequencing methods.
4. The results of the analysis provide information on the presence or absence of genetic variants associated with alpha thalassemia and certain structural hemoglobinopathies.

4. Qualifying circumstances

CPT 81269 is typically ordered by clinicians to confirm suspected alpha thalassemia, which is commonly caused by deletions in the HBA1/HBA2 genes. Alpha thalassemia can manifest in various forms depending on the number of mutated HBA1/HBA2 alleles inherited. The most severe form, Hb Bart syndrome, results from deletion mutations in all four alleles, leading to anemia, enlarged liver and spleen, and hydrops fetalis syndrome. Milder forms, such as HbH disease, involve fewer damaged alleles and less severe symptoms. The frequency of HBA1/HBA2 variants associated with alpha thalassemia may vary among different ethnic populations, which can impact the interpretation of test results.

5. When to use CPT code 81269

CPT code 81269 should be used when there is a clinical suspicion of alpha thalassemia or certain structural hemoglobinopathies that may be caused by duplications or deletions in the HBA1/HBA2 genes. This code is appropriate for genetic analysis procedures specifically targeting duplication and deletion variants in these genes.

6. Documentation requirements

To support a claim for CPT code 81269, the following documentation is typically required:

• Indication for the test, including the suspected diagnosis or condition
• Details of the genetic analysis procedure performed, such as the use of MLPA or other specific methods
• Date of the analysis
• Results of the analysis, including the presence or absence of duplications and deletions in the HBA1/HBA2 genes
• Interpretation of the results, if applicable
• Signature of the responsible healthcare professional

7. Billing guidelines

When billing for CPT code 81269, it is important to ensure that the procedure performed is specifically for duplication and deletion analysis of the HBA1/HBA2 genes. This code should not be reported for other types of genetic analysis procedures. Additionally, there may be separate codes for specimen collection or interpretation of the test results, which should be reported accordingly. It is advisable to review payer-specific guidelines and policies for accurate billing and reimbursement.

8. Historical information

CPT code 81269 was added to the Current Procedural Terminology system on January 1, 2018. There have been no updates or changes to the code since its addition.

9. Examples

1. A patient with suspected alpha thalassemia undergoes a genetic analysis procedure to evaluate the presence of duplications and deletions in the HBA1/HBA2 genes.
2. A pregnant individual with a family history of Hb Bart syndrome undergoes a genetic analysis procedure to assess the risk of hydrops fetalis syndrome in the fetus.
3. A patient with symptoms suggestive of HbH disease undergoes a genetic analysis procedure to confirm the diagnosis.
4. A couple planning to have children undergoes genetic testing to assess their carrier status for alpha thalassemia.
5. A newborn with abnormal hemoglobin levels undergoes a genetic analysis procedure to determine the underlying genetic cause.
6. A patient with a known familial variant in the HBA1/HBA2 genes undergoes genetic testing to assess the risk of passing on the variant to their offspring.
7. A patient with suspected structural hemoglobinopathy undergoes a genetic analysis procedure to identify duplications or deletions in the HBA1/HBA2 genes.
8. A family with a history of alpha thalassemia undergoes genetic testing to determine the specific genetic variants present.
9. A patient with anemia and characteristic blood smear findings undergoes a genetic analysis procedure to confirm the diagnosis of alpha thalassemia.
10. A patient with a known duplication or deletion variant in the HBA1/HBA2 genes undergoes genetic testing to monitor disease progression and response to treatment.