Summary & Overview
CPT 0265U: Praxis Whole Genome Sequencing with Mitochondrial DNA
CPT code 0265U designates a Proprietary Laboratory Analyses (PLA) test for Praxis Whole Genome Sequencing from Praxis Genomics LLC. The assay uses next-generation sequencing (NGS) of the entire nuclear genome plus mitochondrial DNA on specimens such as blood, tissue, saliva, or buccal swab to assist diagnosis of rare constitutional and other heritable disorders. As a PLA code, 0265U applies only to this single manufacturer- or laboratory-specific test, which matters for coverage and billing clarity across the country.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a national-level overview of clinical context for whole genome sequencing, how PLA status affects coding and identification, and what to expect in payer coverage discussions. The publication highlights benchmarks for utilization and reimbursement where available, recent policy developments relevant to clinical genomic testing, and practical billing considerations tied to specimen types and testing settings. Data not available in the input is noted where applicable, and the report presents concise, actionable information for coding, claims processing, and payer policy review related to CPT code 0265U.
Billing Code Overview
CPT code 0265U is a Proprietary Laboratory Analyses (PLA) code that applies exclusively to a single laboratory test: Praxis Whole Genome Sequencing from Praxis Genomics LLC. The test performs next-generation sequencing (NGS) of the whole genome and mitochondrial DNA to aid in the diagnosis of rare constitutional and other heritable disorders. Report 0265U only for Praxis Whole Genome Sequencing performed on a specimen such as blood, tissue, saliva, or buccal swab.
Service Type: Whole genome sequencing with mitochondrial DNA analysis (NGS-based diagnostic test)
Typical Site of Service: Clinical laboratory or specialized genomic testing facility; specimen collection may occur in outpatient clinics, hospitals, or collection centers.
Clinical & Coding Specifications
Clinical Context
A pediatric or adult patient presents with an undiagnosed, suspected genetic or mitochondrial disorder after standard targeted testing (single‑gene tests, gene panels, chromosomal microarray) failed to identify a cause. Clinical features may include global developmental delay, intellectual disability, congenital anomalies, multiple system involvement, unexplained neuromuscular symptoms, episodic metabolic decompensation, sensorineural hearing loss, or a strong family history of a heritable condition. The ordering clinician (medical geneticist, neurologist, metabolic specialist, or pediatrician) documents the medical necessity and obtains informed consent for whole genome and mitochondrial DNA sequencing.
Specimen collection is performed using blood, saliva, buccal swab, or tissue per the laboratory's instructions. The specimen is sent to Praxis Genomics LLC and logged into the lab’s tracking system. The laboratory performs next‑generation whole genome sequencing and mitochondrial DNA analysis, bioinformatic variant calling, annotation, and clinical interpretation. A final report is issued that summarizes pathogenic, likely pathogenic, and variants of uncertain significance relevant to constitutional and heritable disorders. Results are routed back to the ordering provider for counseling, cascade testing recommendations, and any follow‑up clinical management or referrals.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | No modifier — standard reporting |