Summary & Overview
CPT 0230U: Genomic Unity AR Analysis for Androgen Receptor Variants
Headline: New PLA CPT code 0230U designates Genomic Unity® AR Analysis, a proprietary whole genome sequencing test for androgen receptor variants.
Lead: CPT code 0230U identifies a lab-developed, proprietary genomic test—Genomic Unity® AR Analysis from Variantyx Inc.—that uses PCR-free whole genome sequencing on blood or saliva to evaluate the androgen receptor (AR) gene for variants tied to conditions such as spinal and bulbar muscular atrophy (Kennedy disease) and X chromosome inactivation. This PLA code signals a single-source assay with specific clinical utility in hereditary neuromuscular and X-linked conditions.
Why it matters: As precision genomics expands, PLA codes like CPT code 0230U enable distinct billing and tracking for manufacturer- or lab-specific tests. Nationally, payers and providers use PLA codes to identify single-source assays, monitor utilization, and clarify claims handling for specialized genomic diagnostics.
Payers covered: The analysis addresses major national payers including Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare.
What readers will learn: The publication provides benchmarks and coding guidance for CPT code 0230U, outlines typical clinical indications and testing workflow, and summarizes payer coverage patterns and policy considerations relevant to proprietary genomic AR testing. It also describes service settings and specimen types, and notes where input data is unavailable.
Billing Code Overview
CPT code 0230U is a Proprietary Laboratory Analyses (PLA) code for the Genomic Unity® AR Analysis from Variantyx Inc. The test evaluates the androgen receptor (AR) gene for variants relevant to conditions such as spinal and bulbar muscular atrophy (Kennedy disease) and X chromosome inactivation, using a blood or saliva specimen.
Service Type: Genetic / genomic diagnostic testing using PCR-free whole genome sequencing with algorithmic analysis
Typical Site of Service: Reference laboratory or specialized diagnostic laboratory; specimen collected at outpatient clinics, physician offices, or collection centers
Clinical & Coding Specifications
Clinical Context
A male patient in his 30s to 50s presents to a neuromuscular clinic with progressive limb and bulbar weakness, repetitive falls, muscle cramps, and early signs of androgen insensitivity such as gynecomastia or reduced fertility. Family history reveals male relatives with similar progressive weakness. The clinician orders the Genomic Unity® AR Analysis (0230U) to evaluate the androgen receptor gene for pathogenic variants, including repeat expansions or point mutations associated with spinal and bulbar muscular atrophy (Kennedy disease) and to assess X chromosome inactivation patterns when clinically relevant.
Specimen collection is blood or saliva obtained in the outpatient clinic or an affiliated phlebotomy/lab facility. The sample is sent to Variantyx Inc. for PCR-free whole genome sequencing (WGS) with algorithmic analysis specific to the AR gene. Results return as a molecular diagnostic report detailing detected variants, interpretation of pathogenicity, and potential implications for diagnosis, prognosis, and familial testing. Typical sites of service include outpatient neurology clinics, genetic counseling offices, independent or hospital-affiliated phlebotomy centers, and reference laboratory processing sites.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | Anesthesia for procedures normally requiring general anesthesia | Not typically applicable; use only if anesthesia unrelated to lab testing is documented and billed with lab component per payor rules |
22 | Increased procedural services | Rarely applicable for PLA testing; use if substantially greater lab work or interpretation is documented beyond typical service |
26 | Professional component | Use when billing only the professional interpretation component if the laboratory separates technical and professional billing |
52 | Reduced services | Use if only a limited analysis was performed and documented (e.g., incomplete sequencing) |
53 | Discontinued procedure | Use if testing was started but discontinued for valid documented clinical reasons before completion |
62 | Two surgeons | Not typical for lab testing; include only if two physicians share a billable interpretation per local rules |
78 | Return to the operating room for a related procedure by the same physician following the initial procedure | Not applicable to laboratory testing unless directly related to a billed surgical event |
80 | Assistant surgeon | Not applicable for diagnostic laboratory procedures |
AS | Assistant surgeon (used by Medicare) | Not applicable for diagnostic laboratory procedures |
QK | Medical direction of two or three concurrent anesthesia procedures | Not applicable to this PLA test |
| Taxonomy Code | Specialty | Notes |
|---|---|---|
| 207RG0100X | Medical Genetics & Genomics | Physicians who order, interpret, or counsel on AR gene testing |
| 207L00000X | Neurology | Neurologists evaluating neuromuscular disorders such as Kennedy disease |
| 208D00000X | Pathology | Molecular pathologists directing molecular diagnostic laboratory testing |
| 207V00000X | Obstetrics & Gynecology | Clinicians occasionally involved when X chromosome inactivation findings affect female carriers (counseling) |
| 363A00000X | Genetic Counseling | Genetic counselors who facilitate test selection, consent, and result communication |
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
G12.21 | Spinal and bulbar muscular atrophy (Kennedy disease) | Primary clinical indication for AR gene testing; pathogenic AR variants cause this X-linked motor neuron disease |
R53.2 | Functional quadriplegia | May appear in advanced neuromuscular weakness evaluations where genetic testing helps define etiology |
R25.2 | Cramp and spasm | Symptom prompting evaluation and genetic testing when neuromuscular disease is suspected |
F63.9 | Impulse disorder, unspecified | Not a direct indication; included only if behavioral changes prompt broader neurologic workup (use cautiously) |
Z13.79 | Encounter for other specified screening for genetic and chromosomal anomalies | Used for genetic screening or family history testing related to AR variants |
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
0230U | Genomic Unity® AR Analysis — Proprietary Laboratory Analysis using PCR-free WGS to evaluate the androgen receptor (AR) gene from blood or saliva | The primary PLA code for this specific AR gene analysis performed by Variantyx Inc.; used for final reporting of molecular findings |
81162 | SMN1 gene analysis (e.g., detection of deletions/duplications) | Example of a targeted genetic test that may be ordered in the differential diagnosis of neuromuscular weakness alongside AR testing |
81288 | Dystrophin (DMD) gene analysis | Another neuromuscular genetic test used when clinical features overlap; ordered as part of broader diagnostic evaluation |
81479 | Unlisted molecular pathology procedure | Used for billing atypical or novel molecular tests when no specific PLA code exists; not used when 0230U applies |
88235 | In situ hybridization (CISH/FISH), probe application and interpretation | May be used in complementary testing for structural chromosomal assessments in complex cases |