Summary & Overview
CPT 0075U: CYP2D6 5’ Gene Duplication/Multiplication Targeted Sequence Analysis
CPT code 0075U designates a Proprietary Laboratory Analyses (PLA) test for targeted sequencing to detect CYP2D6 5’ gene duplication or multiplication, developed by the Mayo Clinic Laboratory. It is intended as a reflex or follow-up assay when the primary PLA test 0070U fails to resolve a patient’s CYP2D6 genotype. This genotype can influence the metabolism of multiple commonly prescribed drugs, making accurate determination clinically important for personalized medication management.
Key national payers included in coverage considerations are Aetna, Blue Cross Blue Shield, Cigna, UnitedHealthcare and Medicare. Readers will find a concise description of the clinical role of the test, how it functions as a follow-up molecular assay in reference laboratory settings, and what aspects typically affect payer coverage decisions for PLA molecular diagnostics. The publication outlines benchmarks and policy-relevant topics such as PLA coding implications, clinical utility in pharmacogenomics, and common payer considerations for single-manufacturer diagnostics. Data not provided in the input — including specific payer coverage policies, associated taxonomies, ICD-10 mappings, and related codes — are noted as unavailable. The report is geared to billing managers, laboratory directors, and policy analysts seeking a national-level briefing on CPT code 0075U and its clinical context.
Billing Code Overview
CPT code 0075U is a Proprietary Laboratory Analyses (PLA) code for the CYP2D6 5’ gene duplication/multiplication targeted sequence analysis developed by the Mayo Clinic Laboratory. This test is a follow-up molecular diagnostic assay used when the initial 0070U test does not determine a patient’s CYP2D6 genotype. The result can impact drug metabolism and pharmacogenomic decision-making for medications processed by the CYP2D6 pathway.
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Service type: Targeted molecular diagnostic laboratory test (gene duplication/multiplication analysis)
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Typical site of service: Clinical molecular laboratory / reference laboratory testing performed on patient specimens
Clinical & Coding Specifications
Clinical Context
A patient undergoing pharmacogenomic assessment for medication selection and dosing presents for targeted follow-up testing after an initial CYP2D6 assay returned ambiguous results. Typical scenario: a 45-year-old patient with chronic pain and major depressive disorder is being evaluated because prior treatment failures and adverse drug reactions suggest atypical CYP2D6 metabolism. The initial CYP2D6 targeted sequence analysis (0070U) yielded inconclusive genotype calls related to copy number variation. The clinician orders the CYP2D6 5' gene duplication/multiplication targeted sequence analysis (0075U) performed by a specialized laboratory (Mayo Clinic Laboratory) to resolve gene duplication/multiplication and finalize the patient’s CYP2D6 diplotype.
Clinical workflow:
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Referral/order: The prescribing clinician (pain specialist, psychiatrist, primary care physician, or clinical pharmacogeneticist) places an order for
0075Uwhen0070Uis inconclusive for copy number variants. -
Sample collection: A peripheral blood sample or validated DNA specimen is collected at an outpatient phlebotomy center or hospital laboratory and sent to the specialized laboratory.
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Laboratory processing: The Mayo Clinic Laboratory performs the proprietary targeted sequence analysis to detect 5' gene duplications/multiplications and reports definitive copy number and allele structure.
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Result reporting: The laboratory issues a report indicating resolved CYP2D6 genotype (eg, ultrarapid, normal, intermediate, or poor metabolizer classification) with interpretation relevant to medications metabolized by CYP2D6.