Summary & Overview
CPT 81467: Whole Genome Sequencing, Interpretation and Report
CPT code 81467 covers whole genome sequencing, interpretation, and reporting—a cutting-edge genetic testing service that enables clinicians to analyze a patient's entire genome for diagnostic and prognostic purposes. This code is significant nationally as whole genome sequencing is becoming a cornerstone in precision medicine, offering comprehensive insights into genetic disorders, rare diseases, and complex conditions. The service is typically performed in laboratory settings and is relevant for a wide range of clinical specialties, including medical genetics and molecular diagnostics.
Blue Cross Blue Shield is a key payer included in this analysis, reflecting the growing coverage of advanced genetic testing services by major insurers. Readers will gain an understanding of the clinical context for whole genome sequencing, including its applications for conditions such as chromosomal abnormalities, metabolic disorders, autism spectrum disorders, Down syndrome, and congenital malformation syndromes. The publication also provides an overview of related CPT codes, common modifiers, and associated taxonomies, offering a comprehensive look at billing, policy updates, and clinical benchmarks for this service. This summary is designed to inform healthcare professionals, laboratory administrators, and policy analysts about the evolving landscape of genetic testing reimbursement and utilization.
CPT Code Overview
CPT code 81467 represents whole genome sequencing, interpretation and report, a comprehensive genetic testing service. This procedure involves sequencing the entire genome to identify genetic variations that may be associated with disease or other health conditions. The service is typically performed in a laboratory setting (Place of Service 81). Whole genome sequencing is increasingly utilized in clinical practice for its ability to provide broad insights into genetic disorders, congenital anomalies, and complex conditions.
Clinical & Coding Specifications
Clinical Context
A patient presents with unexplained developmental delays, congenital anomalies, or a suspected genetic disorder. After initial clinical evaluation and standard genetic testing, the healthcare provider determines that comprehensive genetic analysis is necessary. Whole genome sequencing (CPT 81467) is ordered to identify potential genetic variants that may explain the patient's condition. The specimen is sent to a laboratory (Place of Service 81), where the sequencing is performed, interpreted, and a report is generated. The ordering provider may be a specialist in medical genetics, and the results are used to guide further clinical management.
Coding Specifications
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Modifiers:
26: Professional Component – Used when only the interpretation and report are performed by the provider, not the technical sequencing.TC: Technical Component – Used when only the technical aspect (sequencing) is performed, not the interpretation.
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Provider Taxonomies:
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