Summary & Overview
CPT 0216U: Ataxia Repeat Expansion and Sequence Analysis
CPT code 0216U is a Proprietary Laboratory Analyses (PLA) code that identifies the Genomic Unity® Ataxia Repeat Expansion and Sequence Analysis from Variantyx Inc., a targeted genetic test for diagnosing ataxia caused by tandem repeat expansions across 12 loci. PLA codes are specific to a single manufacturer's or laboratory's proprietary test, making 0216U important for billing and utilization tracking of a unique molecular diagnostic service. Nationally, such PLA codes matter for payers, labs, and clinicians seeking precise identification of specialized genetic tests and for tracking adoption of advanced diagnostics.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise overview of what the code represents, the clinical context for use in suspected repeat-expansion ataxias, typical service settings, and the implications of a PLA designation. The publication covers benchmarks and payer coverage considerations where available, summarizes clinical utility and testing scope, and highlights administrative aspects relevant to billing and claim submission. Data not available in the input is noted where applicable.
Billing Code Overview
CPT code 0216U is a Proprietary Laboratory Analyses (PLA) code for the Genomic Unity® Ataxia Repeat Expansion and Sequence Analysis by Variantyx Inc. The test analyzes tandem repeat expansions and sequence variants across 12 specific loci to aid diagnosis of ataxia caused by repeat expansions.
Service Type: Genetic laboratory testing — targeted repeat expansion and sequence analysis
Typical Site of Service: Independent or hospital-based clinical molecular diagnostic laboratory; specimens collected in ambulatory clinics or hospitals and sent to the performing laboratory.
Clinical & Coding Specifications
Clinical Context
A patient in their 20s–60s presents to a neurology clinic with progressive gait instability, imbalance, dysarthria, and/or coordination difficulties. The neurologist documents a clinical suspicion for hereditary or sporadic ataxia and orders specialized genetic testing to evaluate tandem repeat expansions and sequence variants across multiple ataxia-associated loci. A blood specimen is collected in an outpatient phlebotomy suite or ambulatory clinic and sent to Variantyx Inc. for the Genomic Unity® Ataxia Repeat Expansion and Sequence Analysis reported under 0216U. Results are reviewed by the ordering neurologist or geneticist to confirm a diagnosis of repeat expansion–associated ataxia, guide genetic counseling, family testing, and management decisions. Typical site of service: outpatient neurology clinic, specialty genetic clinic, or independent clinical laboratory performing PLA testing.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the professional interpretation component separate from technical laboratory processing if payer allows split billing. |
TC |