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 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

Taxonomy Code	Specialty	Notes
207Q00000X	Medical Genetics	Ordering and interpreting clinicians for constitutional genomic testing.
208800000X	Neurology	Neurologists who order testing for unexplained neuromuscular or neurodevelopmental disorders.
207L00000X	Pediatric Medicine	Pediatricians evaluating developmental delay and congenital anomalies.
208000000X	Pathology	Laboratory directors and molecular pathologists overseeing test validation and interpretation.
3336C0002X	Clinical Biochemical Genetics	Metabolic specialists ordering mitochondrial and metabolic disorder evaluation.

Related Diagnoses

ICD-10 Code	Description	Clinical Relevance
`Q87.8`	Other specified congenital malformation syndromes affecting multiple systems	Represents multisystem congenital presentations prompting comprehensive genomic evaluation.
`R62.0`	Delayed milestone in childhood	Common indication for genomic testing in unexplained developmental delay.
`F82`	Specific developmental disorder of motor function	Motor developmental disorders may trigger genetic and mitochondrial evaluation.
`G31.9`	Degenerative disease of nervous system, unspecified	Unexplained progressive neurologic conditions in adults may prompt whole genome sequencing.
`H90.3`	Sensorineural hearing loss, bilateral	Bilateral sensorineural hearing loss of suspected genetic etiology is a standard indication for genomic testing.

Related CPT Codes

CPT Code	Description	Relationship to This Procedure
`36415`	Collection of venous blood by venipuncture	Commonly performed to obtain a blood specimen for whole genome sequencing.
`99000`	Handling and/or conveyance of a specimen for transfer from the physician to a laboratory	Used when specific specimen handling or transport services are billed by the provider (billing rules vary).
`82542`	Creatine kinase; total	Often ordered as part of neuromuscular workup that may accompany genetic testing in suspected muscular disorders.
`G0480`	High complexity clinical laboratory tests, per CPT may be used for certain molecular tests (Medicare guidance varies)	Related to laboratory infrastructure and payment policies; laboratories may reference high‑complexity designations in workflows.
`81420`	Targeted genomic sequence analysis panel, 5-50 genes (hypothetical related code)	Panels may have been performed prior to escalation to whole genome sequencing; included here as commonly preceding tests in the diagnostic pathway.

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Summary & Overview