Summary & Overview
CPT 81326: Targeted Familial Mutation Analysis, PMP22
CPT code 81326 represents a targeted molecular diagnostic test that detects familial mutations in the peripheral myelin protein 22 (PMP22) gene. This precise, family-informed assay is used when specific pathogenic variants are already identified in relatives and clinicians seek confirmation in at-risk individuals. Nationally, such targeted genetic testing supports diagnostic clarity for hereditary neuropathies and informs family counseling and care planning.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise overview of clinical context for PMP22 familial testing, typical service settings, and the policy and coverage considerations that commonly affect reimbursement and utilization. The publication summarizes benchmark themes, common billing considerations, and implications for laboratory service delivery.
The report provides payor coverage framing, coding context, and operational notes for laboratories and billing teams, including an explanation of the service type and where the service is typically performed. Data not available in the input are noted where applicable. This national-level summary is intended to orient clinical, laboratory, and policy stakeholders to the role of CPT code 81326 in genetic diagnostic workflows.
Billing Code Overview
CPT code 81326 describes a laboratory procedure in which a lab analyst performs the technical test to detect the presence of familial mutations in the peripheral myelin protein 22 gene (PMP22). This test is a targeted genetic analysis focused on variants already known to occur in the patient’s family.
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Service type: Diagnostic molecular genetic testing (targeted familial mutation analysis)
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Typical site of service: Clinical molecular genetics laboratory or hospital-based molecular diagnostics laboratory
Data not available in the input for payers, taxonomies, ICD-10 diagnoses, and related codes.
Clinical & Coding Specifications
Clinical Context
A typical patient is an individual with a family history of hereditary neuropathy, such as Charcot–Marie–Tooth disease or hereditary neuropathy with liability to pressure palsies, undergoing targeted genetic testing to detect a known familial mutation in the peripheral myelin protein 22 gene (PMP22). The clinical workflow begins with a genetic counselor or neurologist documenting a family member's pathogenic PMP22 variant and ordering targeted molecular testing for that specific mutation. A specimen (usually blood) is collected at an outpatient phlebotomy center or hospital laboratory and sent to a molecular diagnostics lab. The lab analyst performs 81326 to test for the presence or absence of the specific familial PMP22 mutation. Results are reported to the ordering provider and genetic counselor who discuss implications for diagnosis, prognosis, and family testing. Typical sites of service include outpatient hospital laboratories, independent reference laboratories, and academic molecular pathology labs; service type is a targeted molecular genetic test (technical/analytic).
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the professional (interpretation) portion and the laboratory separates technical and professional components. |