2025 CPT code 81229
(Active) Effective Date: N/A Revision Date: N/A Laboratory - Molecular Pathology Procedures Pathology and Laboratory Feed
Cytogenomic (genome-wide) microarray analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants.
Modifiers may be applicable depending on the circumstances.For example, modifier 26 may be used if only the interpretation and report are performed. Consult local payer guidelines for specific modifier usage.
Medical necessity for code 81229 is established based on the presence of clinical indications suggesting a chromosomal abnormality, such as developmental delays, intellectual disability, congenital anomalies, or family history of genetic disorders. The test helps in reaching a diagnosis, informing treatment strategies, and providing genetic counseling.
The clinical responsibility lies with the ordering physician who interprets the results and uses them to inform diagnosis, prognosis, and treatment planning. The laboratory performs the technical aspects of the test.
In simple words: This lab test examines a person's entire set of genes to find changes in the number of gene copies or small changes in the gene's sequence. It helps detect genetic problems that may cause developmental delays, intellectual disabilities, or other health issues.The test uses advanced technology to analyze a blood or tissue sample.
This CPT code encompasses a genome-wide microarray analysis using comparative genomic hybridization (CGH) or a similar technology.The procedure involves the interrogation of genomic regions to identify copy number variants (CNVs), such as deletions or duplications, and single nucleotide polymorphisms (SNPs).The analysis aims to detect constitutional chromosomal abnormalities. The test uses oligonucleotide probes for CNV detection and SNP probes for zygosity status determination.
Example 1: A child presents with developmental delays and intellectual disability. The physician orders code 81229 to screen for chromosomal abnormalities and identify potential genetic causes., A pregnant woman undergoes non-invasive prenatal testing. Part of the analysis involves using code 81229 to detect chromosomal abnormalities in the fetus., An adult patient with a family history of genetic disorders undergoes a comprehensive genetic evaluation including code 81229 to screen for underlying chromosomal issues.
A detailed patient history including family history, presenting symptoms, and clinical findings is necessary. The lab report detailing the specific CNVs and SNPs identified should be included. Supporting documentation justifying medical necessity (e.g. developmental delays, intellectual disability, family history) is crucial.
** The test is qualitative, not quantitative, meaning it detects the presence or absence of variants. Results may need further clarification with additional tests.
- Payment Status: Active
- Modifier TC rule: Not applicable.
- Specialties:Medical Genetics, Genetic Counseling, Clinical Cytogenetics, Pediatric Genetics, Obstetrics/Gynecology (in prenatal settings)
- Place of Service:Laboratory, Hospital (Inpatient/Outpatient), Physician's Office