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:
| Taxonomy Code | Specialty Name |
|---|---|
207SG0201X | Medical Genetics, Ph.D. Medical Genetics |
207SG0202X | Medical Genetics, Clinical Genetics (M.D.) |
207SG0203X | Medical Genetics, Clinical Biochemical Genetics |
207SG0205X | Medical Genetics, Clinical Molecular Genetics |
207SG0206X | Medical Genetics, Clinical Cytogenetics |
These taxonomies represent providers specializing in various aspects of medical genetics, including clinical, biochemical, molecular, and cytogenetic 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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E88.9: Metabolic disorder, unspecified- Used when a metabolic disorder is suspected and genetic testing is needed to determine the cause.
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F84.0: Autistic disorder- Applied when autism is present and genetic evaluation is indicated to identify potential genetic contributors.
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Q90.9: Down syndrome, unspecified- Used for patients with Down syndrome, where whole genome sequencing may provide additional genetic information.
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Q87.1: Congenital malformation syndromes predominantly associated with short stature- Relevant for patients with congenital malformations and short stature, where genetic analysis may clarify the diagnosis.
Related CPT Codes
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.81228: Cytogenomic constitutional (genome-wide) microarray analysis – Used for genome-wide microarray analysis to detect chromosomal abnormalities; may be performed prior to or instead of whole genome sequencing.81229: Cytogenomic constitutional (genome-wide) microarray analysis; each additional microarray – Used when multiple microarrays are required in the analysis.81470: Whole exome sequencing, interpretation and report – Focuses on sequencing the protein-coding regions of the genome; may be used as an alternative to whole genome sequencing (81467).81471: Whole mitochondrial genome sequencing, interpretation and report – Used for sequencing the mitochondrial genome; may be performed in conjunction with or as an alternative to whole genome sequencing.
Codes 81470 and 81471 are commonly used as alternatives or adjuncts to 81467 depending on the clinical scenario. Codes 81228 and 81229 may be used for chromosomal analysis prior to sequencing. 81479 is used when no specific code applies.
National Reimbursement Benchmarks
For CPT code 81467, the national mean rate for Blue Cross Blue Shield and BUCA (average commercial) is $80.02. No Medicare benchmark is available for this code, so a direct comparison between commercial and Medicare rates cannot be made.
Rate dispersion across both Blue Cross Blue Shield and BUCA is minimal, with the 25th, 50th, and 75th percentiles all at $80.00. This indicates a very tight range, suggesting little variation in reimbursement rates among providers nationally for these payers.
The table and chart below present the full breakdown of national mean rates and percentile values for each payer.
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