How To Use CPT Code 81220

CPT 81220 refers to the gene analysis of common variants in the CFTR gene, primarily used for pre-conception, prenatal testing, and newborn screening for cystic fibrosis. This article will cover the description, procedure, qualifying circumstances, usage, documentation requirements, billing guidelines, historical information, similar codes, and examples of CPT code 81220.

1. What is CPT 81220?

CPT 81220 is a medical billing code used to describe the laboratory analysis of common variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This test is primarily used for pre-conception or prenatal testing to identify couples at risk of passing cystic fibrosis to their child, as well as for newborn screening for cystic fibrosis.

2. 81220 CPT code description

The official description of CPT code 81220 is: “CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)”.

3. Procedure

1. Collection of patient’s blood or tissue sample.
2. Extraction of nucleic acids from the sample using methods such as cell lysis and digestion.
3. Amplification of the extracted nucleic acids to increase and stabilize the quantity for analysis.
4. Detection of target genes using methods such as nucleic acid probes.
5. Analysis of the results to identify the presence of common CFTR gene mutations.
6. Reporting of the test results to the ordering clinician.

4. Qualifying circumstances

Patients eligible to receive CPT code 81220 services include those who are undergoing pre-conception or prenatal testing to identify the risk of passing cystic fibrosis to their child, as well as newborns undergoing screening for cystic fibrosis. The test is particularly relevant for non-Hispanic white or Ashkenazi Jewish populations, as these groups have a higher prevalence of cystic fibrosis carriers.

5. When to use CPT code 81220

It is appropriate to bill the 81220 CPT code when a clinician orders the test for pre-conception or prenatal testing to identify couples at risk of passing cystic fibrosis to their child, or for newborn screening for cystic fibrosis. The test evaluates the most common CFTR gene mutations, as identified by the American College of Medical Genetics/American College of Obstetricians guidelines.

6. Documentation requirements

To support a claim for CPT 81220, the following information should be documented:

• Patient’s demographic information, including age, sex, and ethnicity.
• Relevant medical history, including family history of cystic fibrosis.
• Indication for the test, such as pre-conception or prenatal testing, or newborn screening.
• Details of the sample collection, including date and type of sample (blood or tissue).
• Results of the CFTR gene analysis, including the presence or absence of common mutations.
• Interpretation of the test results by a qualified physician, if applicable.

7. Billing guidelines

When billing for CPT code 81220, it is important to distinguish it from similar codes, such as 81221, 81222, 81223, and 81224. Additionally, if the ordering clinician requests a physician interpretation of the test results, and a pathologist provides an interpretation and report, G0452 with modifier 26 can be reported to Medicare and other payers. Ensure that the interpretation is performed by an MD or DO physician, not a PhD laboratory scientist, as per CMS guidelines.

8. Historical information

CPT 81220 was added to the Current Procedural Terminology system on January 1, 2012. There have been no updates to the code since its addition.

9. Similar codes to CPT 81220

Five similar codes to CPT 81220 and how they differentiate from CPT 81220 are:

• CPT 81221: This code is used for CFTR gene analysis of known familial variants, rather than common variants.
• CPT 81222: This code is used for CFTR gene analysis of duplication or deletion variants, rather than common variants.
• CPT 81223: This code is used for CFTR gene analysis involving full gene sequencing, rather than analysis of common variants.
• CPT 81224: This code is used for CFTR intron 8 poly-T analysis, which is not included in the 81220 test for common variants.
• G0452: This code is used for physician interpretation of molecular pathology results, which may be billed in addition to CPT 81220 if a separate interpretation is requested and provided.

10. Examples

Here are 10 detailed examples of CPT code 81220 procedures:

1. A couple planning to conceive undergoes testing for common CFTR gene mutations to assess their risk of having a child with cystic fibrosis.
2. A pregnant woman with a family history of cystic fibrosis undergoes testing for common CFTR gene mutations to determine the risk of her unborn child having the condition.
3. A newborn is screened for cystic fibrosis using the 81220 CPT code to detect common CFTR gene mutations.
4. A patient with a sibling affected by cystic fibrosis undergoes testing for common CFTR gene mutations to determine their carrier status.
5. An Ashkenazi Jewish couple undergoes testing for common CFTR gene mutations as part of their pre-conception planning.
6. A pregnant woman with no known family history of cystic fibrosis undergoes testing for common CFTR gene mutations due to her ethnicity, which is associated with a higher prevalence of cystic fibrosis carriers.
7. A couple who has previously had a child with cystic fibrosis undergoes testing for common CFTR gene mutations before attempting to conceive again.
8. A newborn with a positive cystic fibrosis newborn screening result undergoes confirmatory testing using CPT code 81220 to detect common CFTR gene mutations.
9. A couple undergoing in vitro fertilization (IVF) undergoes testing for common CFTR gene mutations to assess their risk of having a child with cystic fibrosis.
10. A pregnant woman with inconclusive prenatal screening results undergoes testing for common CFTR gene mutations to determine the risk of her unborn child having cystic fibrosis.