Summary & Overview
CPT 81412: Genomic Sequence Analysis Panel for Carrier Testing
CPT code 81412 represents a genomic sequence analysis panel for carrier testing, focusing on inherited disorders such as those commonly found in the Ashkenazi Jewish population. This code is significant nationally as it enables early identification of carrier status for a range of genetic conditions, supporting informed reproductive decisions and clinical management. The procedure involves sequencing at least 9 genes and is performed in specialized laboratory settings.
Major payers covering this service include Aetna, Blue Cross Blue Shield, Cigna Health, and UnitedHealthcare. The publication provides an overview of payer coverage, clinical context, and policy updates relevant to 81412. Readers will gain insights into benchmarks for laboratory genomic testing, recent changes in payer policies, and the broader clinical implications of carrier screening. The summary also highlights the importance of this code in the context of medical genetics and laboratory procedures, offering a comprehensive look at how genomic sequencing panels are utilized in modern healthcare.
CPT Code Overview
CPT code 81412 is used for genomic sequence analysis panels for carrier testing, specifically targeting disorders prevalent in certain populations, such as Ashkenazi Jewish disorders. This procedure involves sequencing at least 9 genes to identify carrier status for inherited conditions. The service falls under Pathology and Laboratory Procedures – Genomic Sequencing Procedures and Other Molecular Multianalyte Assays. Testing is typically performed in a laboratory setting, designated as Place of Service 81.
Clinical & Coding Specifications
Clinical Context
A patient of Ashkenazi Jewish descent, or with a family history of Ashkenazi Jewish-associated genetic disorders, is referred for carrier testing. The ordering provider, often a specialist in medical genetics, requests a genomic sequence analysis panel to screen for carrier status of at least 9 genes associated with disorders such as Gaucher disease, Tay-Sachs disease, and others. The specimen is collected and sent to a laboratory (Place of Service 81) specializing in molecular genetics. The laboratory performs the sequencing and interprets the results, which are then reported back to the provider for patient counseling and potential family planning decisions.
Coding Specifications
-
Modifier
26: Used to indicate the professional component of the service, such as interpretation and reporting by a qualified provider. -
Modifier
59: Used to denote a distinct procedural service, typically when multiple procedures are performed and need to be reported separately.
| Modifier Code | Description |
|---|---|
26 | Professional Component |
59 | Distinct Procedural Service |
- Associated 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 |
Related Diagnoses
-
E75.22– Gaucher disease: Relevant for carrier screening as Gaucher disease is prevalent in Ashkenazi Jewish populations. -
E75.242– Niemann-Pick disease: Included due to its association with carrier status in targeted populations. -
E74.21– Mucolipidosis IV: Screened in panels for Ashkenazi Jewish disorders. -
E75.02– Tay-Sachs disease: A key disorder in carrier testing for Ashkenazi Jewish individuals. -
E76.01– Bloom syndrome: Included in the panel due to its genetic prevalence. -
E76.02– Canavan disease: Screened as part of the carrier testing panel. -
E76.03– Familial dysautonomia: Relevant for carrier status determination. -
E76.04– Fanconi anemia group C: Included in the panel for comprehensive carrier screening.
Each diagnosis code represents a genetic disorder commonly screened in carrier testing panels for Ashkenazi Jewish-associated conditions, aligning with the clinical purpose of CPT code 81412.
Related CPT Codes
81443: Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish‑associated disorders), genomic sequence analysis panel, must include sequencing of at least 15 genes. If testing is performed only for Ashkenazi Jewish‑associated disorders, use81412.
Clinical Relationship:
81443is used for broader panels that include at least 15 genes and may cover a wider range of severe inherited conditions.81412is specifically for carrier testing panels focused on Ashkenazi Jewish-associated disorders with at least 9 genes.- These codes are alternatives depending on the scope of genetic testing required. They are not typically billed together for the same patient encounter.
National Reimbursement Benchmarks
National mean rates for CPT code 81412 among commercial payers are highest for Blue Cross Blue Shield at $1,962.68, with BUCA (the average commercial benchmark) at $1,681.57. Compared to typical Medicare rates, commercial mean rates are substantially higher, reflecting the premium paid by private insurers.
Rate dispersion varies significantly across payers. UnitedHealth Group shows the tightest range, with a difference of $686.00 between the 75th and 25th percentiles, indicating less variability in reimbursement. Cigna exhibits the widest spread, with a $2,009.00 difference, suggesting greater variability in rates paid to providers. The table and chart below present the full breakdown of national benchmarks for each payer.
Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.