How To Use CPT Code 81349

CPT 81349 describes the cytogenomic analysis for constitutional chromosomal abnormalities using low-pass sequencing analysis. 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 81349?

CPT 81349 is used to describe the cytogenomic analysis for constitutional chromosomal abnormalities. This analysis involves the interrogation of genomic regions for copy number and loss-of-heterozygosity variants using low-pass sequencing analysis. It is a comprehensive test that evaluates the entire genome for changes such as copy-number variants (CNVs) and long sequences of homozygous DNA. The test helps in identifying genetic changes associated with developmental delays, disabilities, and other genetic disorders.

2. Official Description

The official description of CPT code 81349 is: ‘Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and loss-of-heterozygosity variants, low-pass sequencing analysis.’

3. Procedure

1. The lab analyst extracts DNA from the specimen, such as blood, and amplifies the amount of DNA for next-generation sequencing (NGS) analysis of the entire genome.
2. NGS uses an automated instrument to determine the order of DNA or RNA nucleotides in many genes and uses bioinformatics to interpret the results.
3. The test evaluates the specimen for copy-number variants (CNVs), deletions, duplications of specific nucleotide sequences, and other chromosomal abnormalities such as long sequences of homozygous DNA.
4. The test provides enhanced ability to discover genetic variants compared to older cytogenetic tests such as karyotyping or comparative genomic hybridization (CGH) microarray.
5. CPT 81349 includes all the DNA sequences tested, so there is no need to report another specific code for any targeted sequences.

4. Qualifying circumstances

CPT 81349 is used for the evaluation of constitutional chromosomal abnormalities. It is ordered when there are signs of developmental delays, intellectual disability, autism spectrum disorder (ASD), congenital anomalies, or other genetic disorders. The test is not limited to a specific condition and provides a broad evaluation for a wide range of possible genetic disorders across the entire genome.

5. When to use CPT code 81349

CPT code 81349 should be used when performing cytogenomic analysis for constitutional chromosomal abnormalities using low-pass sequencing analysis. It is not necessary to use this code when performing targeted analysis or when the analysis is included in other specific codes. It is important to choose the most appropriate code that closely describes the lab methods used and variants identified.

6. Documentation requirements

To support a claim for CPT 81349, the documentation should include:

• Reason for ordering the test, such as signs of developmental delays or genetic disorders
• Details of the low-pass sequencing analysis performed
• Results of the analysis, including copy-number variants (CNVs) and other chromosomal abnormalities
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81349, it is important to follow the guidelines and ensure accurate reporting. Do not report CPT 81349 in conjunction with other specific codes for targeted analysis or when the analysis is included in other codes. It is recommended to choose the most appropriate code that closely describes the lab methods used and variants identified. Additional tips for accurate billing can be obtained from the payer or coding guidelines.

8. Historical information

CPT 81349 was added to the Current Procedural Terminology system on January 1, 2022. There have been no updates to the code since its addition.

9. Examples

1. A child with developmental delays undergoes CPT 81349 to evaluate for chromosomal abnormalities.
2. A patient with intellectual disability and congenital anomalies undergoes CPT 81349 to identify potential genetic causes.
3. A newborn with signs of a genetic disorder undergoes CPT 81349 to assess for copy-number variants and other chromosomal abnormalities.
4. A family with a history of genetic disorders undergoes CPT 81349 to screen for potential chromosomal abnormalities.
5. An individual with autism spectrum disorder (ASD) undergoes CPT 81349 to evaluate for genetic variants associated with the condition.
6. A patient with unexplained developmental delays undergoes CPT 81349 to identify potential genetic causes.
7. A child with multiple congenital anomalies undergoes CPT 81349 to assess for chromosomal abnormalities.
8. A patient with a family history of genetic disorders undergoes CPT 81349 to screen for potential chromosomal abnormalities.
9. An individual with intellectual disability undergoes CPT 81349 to evaluate for genetic variants associated with the condition.
10. A newborn with unexplained congenital anomalies undergoes CPT 81349 to identify potential genetic causes.