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CPT 81292: MLH1 Full Gene Sequencing
CPT code 81292 designates full-gene sequencing of the MLH1 gene, a key mismatch repair gene implicated in Lynch syndrome and hereditary colorectal cancer risk. Nationally, comprehensive MLH1 sequencing supports diagnostic confirmation, risk stratification, and cascade testing in affected families, making it a clinically significant molecular diagnostic service. Payers commonly covering this service include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare.
Readers will learn what CPT code 81292 represents, where the test is typically performed, and the clinical context for ordering full MLH1 sequencing. The publication summarizes payer coverage considerations, common modifiers associated with laboratory services, and the service line and site of service typically involved. It also outlines what benchmarks and policy topics to review for labs and payers, including coding specificity, clinical indications for comprehensive sequencing, and integration with hereditary cancer evaluation pathways. Data not available in the input is noted where applicable.
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Billing Code Overview
CPT code 81292 describes analysis of the full gene sequence of the mutL homolog 1 (MLH1) gene, also known as the colon cancer or nonpolyposis type 2 gene. The service involves laboratory technical work to sequence and detect variants across the entire coding region of MLH1 for clinical genetic evaluation.
Service type: Molecular diagnostic laboratory testing — full gene sequencing
Typical site of service: Clinical diagnostic laboratory / reference laboratory