How To Use CPT Code 0209U

CPT 0209U describes the Cytogenomic constitutional (genome-wide) analysis, which involves the interrogation of genomic regions for copy number, structural changes, and areas of homozygosity for chromosomal abnormalities. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0209U.

1. What is CPT Code 0209U?

CPT 0209U can be used to describe the Cytogenomic constitutional (genome-wide) analysis, which is a comprehensive test that evaluates the patient’s entire genetic make-up, known as the genome. This test looks for variations in the number of copies of gene sequences, called copy number variants (CNV), and other chromosomal markers of abnormalities, such as structural changes and sequences of homozygous DNA. It is commonly ordered as an initial test to evaluate children with signs of developmental delays, congenital anomalies, autism/autism spectrum disorders (ASDs), or micro-deletion syndromes.

2. Official Description

The official description of CPT code 0209U is: ‘Cytogenomic constitutional (genome-wide) analysis, interrogation of genomic regions for copy number, structural changes, and areas of homozygosity for chromosomal abnormalities.’

3. Procedure

1. The lab analyst performs all technical steps to prepare the sample, such as whole blood, and performs direct sequencing of genomic DNA using next-generation sequencing (NGS) systems.
2. The test includes alignment to the human reference genome and the use of software for copy number variant (CNV) calls.
3. The test evaluates the patient’s genome for variations in the number of copies of gene sequences, structural changes, and areas of homozygosity for chromosomal abnormalities.
4. The test helps narrow the focus for diagnosis, prognosis, and treatment for the condition being evaluated.

4. Qualifying circumstances

CPT 0209U is typically ordered for patients who exhibit signs of developmental delays, congenital anomalies, autism/ASDs, or micro-deletion syndromes. It is a comprehensive test that evaluates the entire genome for copy number variants, structural changes, and areas of homozygosity for chromosomal abnormalities. Clinicians may order this test to help diagnose, prognose, and treat the patient’s condition.

5. When to use CPT code 0209U

CPT code 0209U should be used when a comprehensive Cytogenomic constitutional analysis is performed to evaluate the patient’s genome for copy number variants, structural changes, and areas of homozygosity for chromosomal abnormalities. It is typically ordered as an initial test for patients with signs of developmental delays, congenital anomalies, autism/ASDs, or micro-deletion syndromes. This code should not be used for other genetic tests that do not involve genome-wide analysis.

6. Documentation requirements

To support a claim for CPT code 0209U, the following documentation is required:

• Indication for the test, such as signs of developmental delays, congenital anomalies, autism/ASDs, or micro-deletion syndromes
• Details of the test performed, including the use of next-generation sequencing systems and software for copy number variant calls
• Date of service and patient identification
• Results of the analysis, including any copy number variants, structural changes, or areas of homozygosity for chromosomal abnormalities
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT code 0209U, ensure that the test performed is the Cytogenomic constitutional analysis for copy number variants, structural changes, and areas of homozygosity for chromosomal abnormalities. This code should not be reported with other CPT codes unless specifically instructed by the payer. It is important to follow the guidelines provided by the payer for proper billing and reimbursement.

8. Historical information

CPT code 0209U was added to the Current Procedural Terminology system on October 1, 2020. There have been no updates or changes to the code since its addition.

9. Examples

1. A child presenting with developmental delays undergoes Cytogenomic constitutional analysis (CPT 0209U) to evaluate the genome for copy number variants, structural changes, and areas of homozygosity for chromosomal abnormalities.
2. A patient with congenital anomalies undergoes Cytogenomic constitutional analysis (CPT 0209U) to assess the genome for any abnormalities that may be contributing to their condition.
3. A child with suspected autism/ASDs undergoes Cytogenomic constitutional analysis (CPT 0209U) to evaluate the genome for any genetic markers associated with these disorders.
4. A patient exhibiting signs of a micro-deletion syndrome undergoes Cytogenomic constitutional analysis (CPT 0209U) to identify any chromosomal abnormalities that may be causing their symptoms.
5. A clinician orders Cytogenomic constitutional analysis (CPT 0209U) as an initial test for a patient with unexplained developmental delays and congenital anomalies to evaluate the entire genome for potential genetic abnormalities.
6. A child with suspected autism/ASDs undergoes Cytogenomic constitutional analysis (CPT 0209U) to assess the genome for any copy number variants, structural changes, or areas of homozygosity that may be associated with these disorders.
7. A patient with a family history of micro-deletion syndromes undergoes Cytogenomic constitutional analysis (CPT 0209U) to identify any chromosomal abnormalities that may be present in their genome.
8. A clinician orders Cytogenomic constitutional analysis (CPT 0209U) for a patient with unexplained developmental delays and congenital anomalies to evaluate the entire genome for potential genetic abnormalities.
9. A child with suspected autism/ASDs undergoes Cytogenomic constitutional analysis (CPT 0209U) to assess the genome for any copy number variants, structural changes, or areas of homozygosity that may be associated with these disorders.
10. A patient with a family history of micro-deletion syndromes undergoes Cytogenomic constitutional analysis (CPT 0209U) to identify any chromosomal abnormalities that may be present in their genome.