CPT 81324 PMP22 Testing Reimbursement & Policy | OpenPayer

Summary & Overview

CPT 81324: PMP22 Deletion/Duplication Analysis

CPT code 81324 denotes technical laboratory testing to detect deletions or duplications in the PMP22 gene, a molecular diagnostic procedure used in the evaluation of hereditary neuropathies such as Charcot–Marie–Tooth disease. This code matters nationally because genetic copy-number analysis informs diagnosis, prognosis, and care planning for patients with suspected peripheral myelin disorders and is subject to payer policy variation and utilization controls.

Key payers in scope include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of clinical context for PMP22 copy-number testing, typical sites of service, and common billing considerations. The publication highlights benchmarking and policy themes relevant to laboratory reimbursement, prior authorization trends, and payer coverage language that commonly affects access to testing.

The report provides practical reference material for billing and compliance teams, laboratory managers, and clinician stakeholders: a clear description of the service represented by 81324, payer coverage landscape, and areas where policy updates or coding clarifications are most impactful. Data not available in the input is noted where applicable.

AetnaBlue Cross Blue ShieldCigna HealthUnitedHealthcareMedicare81324CPTgenetic-testingmolecular-diagnosticsPMP22copy-number-analysislaboratoryneurologyhereditary-neuropathy

Billing Code Overview

CPT code 81324 describes a laboratory test that identifies genetic deletions or duplications in the peripheral myelin protein 22 (PMP22) gene. The procedure involves analysis performed by a laboratory analyst to detect copy number changes in the PMP22 gene that are associated with hereditary neuropathies.

Service type: Genetic diagnostic testing (molecular cytogenetic or copy number analysis)
Typical site of service: Clinical laboratory or hospital laboratory setting

Clinical & Coding Specifications

Clinical Context

A 35-year-old patient with progressive distal symmetric sensory loss, foot deformities (pes cavus), and a family history of hereditary neuropathy is referred to neurology. The neurologist orders genetic testing for peripheral myelin protein 22 to evaluate for Charcot–Marie–Tooth disease type 1A. A phlebotomy appointment is scheduled at an outpatient laboratory. The specimen is labeled, shipped to a molecular diagnostics lab, and the laboratory analyst performs the technical assay to detect deleted or duplicated DNA in the PMP22 gene using chromosomal microarray, multiplex ligation-dependent probe amplification (MLPA), or quantitative PCR methods. The lab documents specimen receipt, runs controls, interprets assay performance, and generates a technical report. The final interpretation may be performed by a laboratory director or molecular pathologist and reported separately. Typical site of service is an outpatient clinical laboratory or hospital molecular diagnostics laboratory.

Coding Specifications

Modifier	Description	When to Use
`26`	Professional component	Use when only the professional (interpretive) component is billed by a physician or lab director separate from the technical component.
`TC`

CPT 81163: BRCA1 and BRCA2 Full Gene Sequencing

CPT-81327-SEPT9-METHYLATION-ASSAY-COLORECTAL-CANCER-SCREENING

CPT 81327: SEPT9 Methylation Assay for Colorectal Cancer Detection

CPT-81304-MECP2-LARGE-DELETION-DUPLICATION-TESTING

CPT 81304: MECP2 Large Deletion/Duplication Genetic Test

CPT-81249-G6PD-GENE-FULL-SEQUENCE-ANALYSIS

CPT 81249: Full G6PD Gene Sequencing

CPT-81296-MSH2-FAMILIAL-MUTATION-TARGETED-TESTING

CPT 81296: Targeted Familial MSH2 Mutation Testing

CPT-81120-IDH1-MOLECULAR-DIAGNOSTIC-TEST

CPT 81120: IDH1 Molecular Diagnostic Test

CPT-81194-NTRK-TRANSLOCATION-TESTING-FFPE-TISSUE

CPT 81194: NTRK Translocation Analysis on FFPE Tumor Tissue

CPT-81315-PML-RARALPHA-FUSION-DETECTION-QUANTIFICATION

CPT 81315: PML/RARalpha (t(15;17)) Fusion Detection and Quantification

CPT-81235-EGFR-GENE-MUTATION-TESTING

CPT 81235: EGFR Gene Mutation Detection, Laboratory Analysis

CPT-81353-TP53-FAMILIAL-VARIANT-ANALYSIS

CPT 81353: TP53 Familial Variant Analysis, Technical Component

Showing 1–10 of 199

Taxonomy Code	Specialty	Notes
208000000X	Clinical Molecular Genetics Laboratory (Laboratory)	Laboratories performing high-complexity molecular testing for genetic disorders.
207Q00000X	Pathology	Molecular pathologists who interpret genetic testing and provide clinical reports.
208D00000X	Clinical Laboratory	Medical technologists and laboratory directors overseeing testing workflow.
2084P0800X	Neurology	Ordering clinicians who evaluate patients with hereditary neuropathy and order `PMP22` testing.

Related Diagnoses

ICD-10 Code	Description	Clinical Relevance
`G60.0`	Hereditary motor and sensory neuropathy	Primary diagnostic group for Charcot–Marie–Tooth disease where `PMP22` testing is commonly indicated.
`G60.8`	Other hereditary and idiopathic neuropathies	Used for other hereditary neuropathies where PMP22 testing may be considered in differential diagnosis.
`G60.9`	Hereditary and idiopathic neuropathy, unspecified	Used when neuropathy is suspected but not yet fully characterized; genetic testing assists diagnosis.
`R20.2`	Paresthesia of skin	Symptom code supporting medical necessity for genetic evaluation in the context of neuropathic symptoms.
`M21.6`	Acquired deformity of foot	Codes for pes cavus or other foot deformities that prompt evaluation for underlying hereditary neuropathy.

Related CPT Codes

CPT Code	Description	Relationship to This Procedure
`81220`	Deletion/duplication analysis, PMP22 (peripheral myelin protein 22) gene; duplication analysis	Alternative or complementary targeted analysis when specific duplication detection is required.
`81221`	Deletion/duplication analysis, PMP22; deletion analysis	Alternative targeted testing for PMP22 deletions when clinical suspicion favors deletion.
`81479`	Unlisted molecular pathology procedure	Used when a specific molecular technique for `PMP22` analysis is not described by existing CPT codes and documentation supports unlisted coding.
`88360`	Morphometric analysis (e.g., nerve biopsy)	Performed if a nerve biopsy is obtained to correlate histopathology with genetic findings; ancillary to molecular testing.
`96372`	Therapeutic, prophylactic, or diagnostic injection (specify substance)	Not typically directly related; included only if procedure codes for treatment are needed in the same episode of care.

OpenPayer