How To Use CPT Code 81205

CPT 81205 describes the analysis of the BCKDHB gene for common variants, such as R183P, G278S, and E422X, which are associated with conditions like maple syrup urine disease. 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 81205?

CPT 81205 is used to analyze the BCKDHB gene for common variants that are associated with conditions like maple syrup urine disease. This code represents the testing for any common changes in the BCKDHB gene, including variants like R183P, G278S, and E422X. The test is typically performed to detect the presence of these variants and determine their impact on the body’s ability to break down certain chemicals.

2. Official Description

The official description of CPT code 81205 is: ‘BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X).’ This code represents the analysis of the BCKDHB gene for common variants associated with conditions like maple syrup urine disease.

3. Procedure

1. The lab analyst performs the technical steps of the analysis, starting from extracting the nucleic acids from the sample.
2. The lab analyst amplifies and stabilizes the quantity of nucleic acid for analysis by methods such as polymerase chain reaction (PCR) or transcription of DNA to RNA and reverse transcription from RNA to make an additional copy of the DNA.
3. The lab analyst detects the target genes, including the BCKDHB gene, using methods such as nucleic acid probes.
4. The analysis includes testing for common variants in the BCKDHB gene, such as R183P, G278S, and E422X, which may cause conditions like maple syrup urine disease.
5. The test may also include the detection of other non-listed variants in the BCKDHB gene.

4. Qualifying circumstances

CPT 81205 is typically ordered for patients with suspected maple syrup urine disease, a condition characterized by the toxic buildup of certain amino acids in the body. Changes to the BCKDHB gene can interfere with the body’s ability to break down these amino acids, leading to various symptoms and complications. The analysis of the BCKDHB gene for common variants helps in diagnosing and managing this condition.

5. When to use CPT code 81205

CPT code 81205 should be used when there is a clinical suspicion of maple syrup urine disease or when the analysis of the BCKDHB gene for common variants is necessary to confirm or rule out this condition. It is important to consider the patient’s symptoms, medical history, and other relevant factors before ordering this test.

6. Documentation requirements

To support a claim for CPT 81205, the documentation should include:

• Clinical indication for the analysis, such as suspected maple syrup urine disease
• Details of the specific variants tested, including R183P, G278S, and E422X
• Date of the analysis
• Results of the analysis, including the presence or absence of the tested variants
• Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT 81205, ensure that the analysis is performed for the detection of common variants in the BCKDHB gene associated with conditions like maple syrup urine disease. It is important to follow the specific guidelines provided by the payer regarding the use of this code and any associated modifiers. Additionally, if the ordering clinician separately requests physician interpretation of the test, it may be appropriate to report an additional code for the interpretation.

8. Historical information

CPT 81205 was added to the Current Procedural Terminology system on January 1, 2012, with the description of ‘BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, Maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X).’ There have been no updates or changes to the code since its addition.

9. Examples

1. A patient presents with symptoms suggestive of maple syrup urine disease, and the analysis of the BCKDHB gene for common variants, including R183P, G278S, and E422X, is performed to confirm the diagnosis.
2. A newborn is screened for maple syrup urine disease, and the analysis of the BCKDHB gene for common variants is included in the screening panel.
3. A family with a history of maple syrup urine disease undergoes genetic testing, including the analysis of the BCKDHB gene for common variants, to assess the risk of passing on the condition to future generations.
4. A patient with suspected maple syrup urine disease undergoes the analysis of the BCKDHB gene for common variants as part of a comprehensive diagnostic workup.
5. A research study investigates the prevalence of common variants in the BCKDHB gene among individuals with maple syrup urine disease.
6. A patient with symptoms resembling maple syrup urine disease undergoes the analysis of the BCKDHB gene for common variants to rule out the condition.
7. A prenatal genetic test includes the analysis of the BCKDHB gene for common variants to assess the risk of maple syrup urine disease in the fetus.