Summary & Overview
CPT 81422: Genomic Sequence Analysis for Fetal Chromosomal Microdeletions
CPT code 81422 represents a genomic sequence analysis panel designed to detect chromosomal microdeletions in circulating cell–free fetal DNA from maternal blood. This advanced molecular assay is crucial for early identification of conditions such as DiGeorge syndrome and Cri–du–chat syndrome, offering significant clinical value in prenatal care. The code is widely recognized across major national payers, including Aetna, Blue Cross Blue Shield, Cigna Health, and UnitedHealthcare, reflecting its importance in coverage and reimbursement policies.
This publication provides a comprehensive overview of 81422, detailing its clinical applications, payer coverage landscape, and relevant benchmarks. Readers will gain insight into current policy updates, utilization trends, and the broader context of genomic sequencing in prenatal screening. The analysis also highlights associated service types, typical laboratory settings, and related procedural codes, equipping stakeholders with essential information for understanding the role of this test in modern maternal-fetal medicine.
CPT Code Overview
CPT code 81422 is used for genomic sequence analysis panels that evaluate circulating cell–free fetal DNA in maternal blood for chromosomal microdeletion(s). This testing is associated with conditions such as DiGeorge syndrome and Cri–du–chat syndrome. The procedure falls under the category of Pathology and Laboratory Procedures, specifically Genomic Sequencing Procedures and Other Molecular Multianalyte Assays. The typical site of service for this test is a laboratory, designated as Place of Service 81.
Clinical & Coding Specifications
Clinical Context
A pregnant patient presents for non-invasive prenatal testing during the first trimester. The clinical workflow involves collecting a maternal blood sample to evaluate circulating cell–free fetal DNA for chromosomal microdeletion syndromes, such as DiGeorge or Cri–du–chat. The test is performed in a laboratory setting (POS 81) and is typically ordered by an obstetrics & gynecology physician, genetic counselor, or medical geneticist. The results assist in antenatal screening and maternal care planning for suspected chromosomal abnormalities in the fetus.
Coding Specifications
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Modifiers:
26: Professional Component – Used when only the interpretation of the test is performed by the provider.TC: Technical Component – Used when only the technical aspect (e.g., sample processing, analysis) is performed.
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Provider Taxonomies:
Code Specialty 207SG0201XGenetic Counselor, MS 207SG0202XMedical Geneticist 207VG0400XObstetrics & Gynecology Physician
These taxonomies represent the specialties typically involved in ordering, interpreting, or counseling for genomic sequence analysis panels.
Related Diagnoses
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Z36.0: Encounter for antenatal screening for chromosomal anomalies- Used when the patient is undergoing routine prenatal screening for chromosomal abnormalities.
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O35.1XX0: Maternal care for (suspected) chromosomal abnormality in fetus, not applicable or unspecified- Applied when there is suspicion of a chromosomal abnormality in the fetus, prompting further testing.
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Z13.79: Encounter for other screening for genetic and chromosomal anomalies- Used for screening encounters not otherwise specified, including microdeletion syndromes.
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O09.511: Supervision of elderly primigravida, first trimester- Indicates prenatal care for a first-time pregnant patient of advanced maternal age, which may increase risk for chromosomal anomalies.
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O09.521: Supervision of elderly multigravida, first trimester- Indicates prenatal care for a patient with multiple pregnancies of advanced maternal age, also associated with increased risk for chromosomal anomalies.
Related CPT Codes
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81420: Fetal chromosomal aneuploidy genomic sequence analysis panel; circulating cell‑free fetal DNA- Used for broader screening of fetal chromosomal aneuploidies (e.g., trisomy 21, 18, 13) via cell-free fetal DNA. May be ordered alongside or as an alternative to
81422depending on clinical indication.
- Used for broader screening of fetal chromosomal aneuploidies (e.g., trisomy 21, 18, 13) via cell-free fetal DNA. May be ordered alongside or as an alternative to
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81436: Hereditary colon cancer disorders duplication/deletion analysis panel- Used for hereditary colon cancer genetic testing. Not typically used together with
81422, but both are genomic sequence analysis panels performed in the laboratory setting.
- Used for hereditary colon cancer genetic testing. Not typically used together with
National Reimbursement Benchmarks
National mean rates for CPT code 81422 among commercial payers are notably higher than typical Medicare rates, with the BUCA (average commercial) mean rate at $623.28. Individual commercial payers such as Blue Cross Blue Shield ($671.89), Cigna ($677.55), and UnitedHealth Group ($604.04) all report mean rates above $600, while Aetna is slightly lower at $584.86. Medicare rates are not available in the input for comparison.
Rate dispersion, measured by the difference between the 75th and 25th percentiles, varies significantly across payers. Cigna exhibits the widest spread at $543.52, indicating substantial variability in reimbursement. UnitedHealth Group has the tightest range at $371.00, suggesting more consistent rates. Blue Cross Blue Shield and Aetna show moderate dispersion, with ranges of $237.00 and $244.00, respectively. The BUCA average has a range of $295.04.
The table and chart below present a detailed breakdown of national benchmarks for each payer, including mean rates and percentile values.
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