Summary & Overview
CPT 0218U: Genomic Unity DMD Analysis
CPT code 0218U designates the Genomic Unity® DMD Analysis from Variantyx Inc., a Proprietary Laboratory Analyses (PLA) test that performs full sequencing plus duplication/deletion analysis of the DMD gene, linked to Duchenne and Becker muscular dystrophies. As a PLA code, 0218U applies to a single manufacturer’s test and is used to identify a specific high-complexity molecular diagnostic service. Nationally, genetic testing for dystrophinopathies is clinically important for diagnosis, carrier detection, and therapeutic decision-making as gene-targeted therapies and clinical trials expand.
Key payers included in the coverage landscape are Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise overview of coverage considerations and payer presence, typical sites of service and service type, and the clinical context for when this test is ordered. The publication summarizes benchmarks and policy-relevant updates where available and highlights common billing modifiers and administrative notes used alongside PLA molecular diagnostics. Data not available in the input are identified where applicable.
Billing Code Overview
CPT code 0218U is a Proprietary Laboratory Analyses (PLA) code for the Genomic Unity® DMD Analysis from Variantyx Inc. The code covers a laboratory diagnostic test that performs full gene sequencing and duplication/deletion analysis of the DMD gene, which is associated with Duchenne and Becker muscular dystrophies. This proprietary test is specific to a single manufacturer or laboratory and is reported using the PLA CPT code 0218U.
Service type: Clinical molecular diagnostic laboratory test (genetic testing for DMD)
Typical site of service: Independent or hospital-based clinical laboratory; outpatient specimen collection sites
Clinical & Coding Specifications
Clinical Context
A young male patient with progressive muscle weakness, delayed motor milestones, and elevated creatine kinase (CK) levels is evaluated in a neuromuscular clinic. The neurologist orders a comprehensive molecular diagnostic test to confirm or exclude Duchenne or Becker muscular dystrophy. Blood is collected in an EDTA tube and sent to the reference laboratory performing the Genomic Unity® DMD Analysis (0218U). The laboratory performs full gene sequencing and deletion/duplication (copy number) analysis of the DMD gene. Results are interpreted by a molecular pathologist and a clinical report is returned to the ordering neurologist and the patient’s genetic counselor. Typical workflow steps: pre-test counseling and consent, blood draw at an outpatient phlebotomy or clinic, sample shipping to the performing laboratory, laboratory extraction and sequencing, bioinformatic analysis for sequence variants and copy-number changes, clinical interpretation, and reporting. Typical sites of service include outpatient neurology clinics, pediatric specialty clinics, hospital outpatient phlebotomy services, and independent reference laboratories. The typical patient scenario includes males with suspected Duchenne muscular dystrophy, Becker muscular dystrophy, or female carriers identified via family history or abnormal newborn/early childhood screening results.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component |