2025 CPT code 81228
(Active) Effective Date: N/A Revision Date: N/A Laboratory - Molecular Pathology Procedures Pathology and Laboratory Procedures Feed
Genome-wide cytogenomic microarray analysis to detect copy number variants (CNVs).
Modifier 26 (professional component) may be appended if only interpretation and reporting are performed.
Medical necessity for CMA is established when a patient presents with unexplained developmental delay, intellectual disability, autism spectrum disorder, congenital anomalies, or a family history suggestive of a chromosomal abnormality. The test helps to establish a diagnosis and guide clinical management.Payer specific guidelines may apply.
The clinical responsibility lies with the ordering physician who interprets the results of the microarray analysis in the context of the patient's clinical presentation and other diagnostic information to make a diagnosis and formulate a treatment plan. The laboratory performs the technical aspects of the test.
In simple words: This lab test uses a microarray (a kind of DNA chip) to scan your entire genetic code for missing or extra pieces of DNA.It's a very detailed test to find small changes in your chromosomes that may cause developmental delays or disabilities.
This CPT code encompasses a comprehensive cytogenomic analysis of the entire genome using microarray technology.The procedure involves the interrogation of genomic regions to identify copy number variations (CNVs), which are alterations in the number of copies of DNA sequences. This high-resolution analysis detects both deletions and duplications of specific nucleotide sequences, providing a detailed assessment of chromosomal abnormalities at a level not achievable with traditional karyotyping.The analysis is performed on a DNA sample extracted from a patient specimen (e.g., blood).The results may require interpretation by a qualified healthcare professional (modifier 26 may be appended if only interpretation is performed).
Example 1: A 3-year-old child presents with developmental delays and intellectual disability.The physician orders a chromosomal microarray analysis (CMA) to identify potential genetic causes of the child's condition. The test reveals a deletion on chromosome 7, explaining the patient's developmental issues., A newborn infant exhibits multiple congenital anomalies.A CMA is performed to detect any underlying chromosomal abnormalities.The results show a duplication on chromosome 21, leading to a diagnosis of Down syndrome., An adult patient presents with a family history of intellectual disability. To investigate the genetic basis of the family history and potential risk to offspring, a CMA is performed as part of a genetic workup.The test results are negative for CNVs.
* Patient's demographic information* Reason for ordering the test (e.g., developmental delay, intellectual disability, congenital anomalies, family history)* Clinical presentation and symptoms* Relevant past medical history* Family history of genetic disorders* Informed consent documentation* Specimen collection and handling information* Results of the microarray analysis including CNV interpretation.
** The microarray technology used may vary (e.g., BAC array, oligo-based CGH array).The specific technology used does not require separate reporting.
- Payment Status: Active
- Modifier TC rule: The technical component is included in the code.A TC modifier would not be applicable unless specified otherwise by the payer.
- Specialties:* Genetics* Medical Genetics* Pediatrics* Cytogenetics* Clinical Genetics
- Place of Service:Office, Hospital (Inpatient and Outpatient), Laboratory