Summary & Overview
CPT 81465: Whole Genome Sequencing, Including Interpretation and Report
CPT code 81465 is designated for whole genome sequencing, encompassing both the interpretation and reporting of results. This advanced genetic testing procedure is pivotal in modern medicine, offering clinicians a comprehensive view of a patient's genetic makeup to aid in diagnosing complex or rare conditions. The service is typically performed in a laboratory setting and is relevant across a variety of clinical specialties, including medical genetics and molecular diagnostics.
Major national payers such as Aetna, Blue Cross Blue Shield, Cigna Health, and UnitedHealthcare provide coverage for this code, reflecting its growing importance in clinical practice. The publication details payer policies, common billing practices, and associated clinical indications, including chromosomal abnormalities, metabolic disorders, and hereditary conditions. Readers will gain insights into current reimbursement benchmarks, policy updates, and the clinical context for whole genome sequencing, as well as related codes and modifiers used in billing.
This summary serves as a resource for understanding the national landscape of coverage and utilization for CPT code 81465, highlighting its role in precision medicine and the evolving standards for genetic testing.
CPT Code Overview
CPT code 81465 represents whole genome sequencing, including interpretation and report. This procedure is a form of genetic testing that analyzes the entire genome to identify genetic variations associated with a wide range of conditions. The typical site of service for this test is a laboratory (Place of Service 81). Whole genome sequencing is increasingly utilized in clinical settings to provide comprehensive genetic information for patients with complex or unexplained medical conditions.
Clinical & Coding Specifications
Clinical Context
A patient, such as a child presenting with unexplained developmental delays, congenital anomalies, or suspected genetic syndromes, is referred for comprehensive genetic evaluation. The clinical workflow involves the ordering provider (often a medical geneticist) requesting whole genome sequencing (CPT 81465) to identify potential genetic causes. The specimen is collected and sent to a specialized laboratory (Place of Service 81), where sequencing, interpretation, and reporting are performed. Results are reviewed by the provider to inform diagnosis and management.
Coding Specifications
| Modifier Code | Description | When Used |
|---|---|---|
26 | Professional Component | Applied when only the interpretation and report are performed by the provider, not the technical lab work |
TC | Technical Component | Applied when only the technical laboratory work (sequencing) is performed, not the interpretation |
Associated Provider Taxonomies:
207SG0201X- Medical Genetics, Clinical Genetics (M.D.): Physicians specializing in clinical genetics207SG0202X- Medical Genetics, Clinical Biochemical Genetics: Physicians specializing in biochemical genetics207SG0203X- Medical Genetics, Clinical Molecular Genetics: Physicians specializing in molecular genetics207SG0205X- Medical Genetics, Ph.D. Medical Genetics: Ph.D. professionals specializing in medical genetics
Related Diagnoses
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Q99.9- Chromosomal abnormality, unspecified- Relevant for patients with suspected chromosomal disorders where whole genome sequencing may identify underlying genetic changes.
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F84.0- Autistic disorder- Used when evaluating patients with autism for potential genetic causes using whole genome sequencing.
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E88.9- Metabolic disorder, unspecified- Applied when metabolic disorders are suspected and genetic testing is needed to identify causative mutations.
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Q90.9- Down syndrome, unspecified- Used for patients with Down syndrome, especially when further genetic characterization is required.
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G11.9- Hereditary ataxia, unspecified- Relevant for patients with unexplained ataxia, where whole genome sequencing may help identify hereditary causes.
Related CPT Codes
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81479- Unlisted molecular pathology procedure- Used for molecular pathology procedures not otherwise specified; may be used when whole genome sequencing does not fit established codes.
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81229- Cytogenomic constitutional (genome-wide) microarray analysis- Used for genome-wide microarray analysis; may be performed as an alternative or complement to whole genome sequencing.
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81415- Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence analysis- Used for exome sequencing; often considered when whole genome sequencing is not indicated or as a step before whole genome sequencing.
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81416- Exome (e.g., unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (e.g., parent or sibling)- Used for sequencing comparator exomes, such as parental or sibling samples, in trio or family studies.
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81417- Exome (e.g., unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence- Used for re-analysis of previously obtained exome data; may be considered when new information or technology becomes available.
Clinical Workflow Relation:
81415,81416, and81417are commonly used as alternatives or adjuncts to81465depending on the scope of genetic testing required.81229may be used prior to or alongside81465for chromosomal analysis.81479is used when a procedure does not fit any specific CPT code.
National Reimbursement Benchmarks
Nationally, the mean rate for CPT code 81465 among BUCA payers (Blue Cross Blue Shield, UnitedHealth Group, Cigna, and Aetna) is $774.10, while Medicare rates are not available in the input. Aetna has the highest mean rate at $819.52, followed closely by Blue Cross Blue Shield at $799.86. Cigna and UnitedHealth Group are lower, at $729.31 and $739.77 respectively.
Rate dispersion varies significantly across payers. Cigna shows the widest spread, with a difference of $802.00 between its 75th and 25th percentiles, indicating substantial variability in reimbursement. In contrast, Blue Cross Blue Shield has a tighter range of $333.00, suggesting more consistent rates. The table and chart below present the full breakdown of national benchmarks for each payer.
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