Summary & Overview
CPT 0267U: Combined Whole Genome Sequencing and Optical Genome Mapping
CPT code 0267U designates a proprietary laboratory test — Praxis Combined Whole Genome Sequencing and Optical Genome Mapping — that pairs next‑generation sequencing (NGS) whole genome sequencing with optical genome mapping to detect single‑nucleotide changes and large structural variants for diagnosing rare constitutional and heritable disorders. As a PLA code, 0267U is specific to Praxis Genomics LLC and reflects expanding clinical use of comprehensive genomic assays that combine multiple platforms to improve diagnostic yield. Nationally, such tests are increasingly relevant for patients with unexplained congenital anomalies, neurodevelopmental disorders, and complex genetic presentations where conventional testing has been nondiagnostic.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare and Medicare. Readers will find a concise overview of clinical context, typical service setting, and the nature of the proprietary test. The publication summarizes payer coverage patterns and benchmarks where available, highlights policy considerations for PLA-coded tests, and outlines operational billing elements such as common modifiers and specimen requirements. The content aims to inform coding, utilization, and policy stakeholders about the clinical role and administrative handling of CPT code 0267U in national practice.
Billing Code Overview
CPT code 0267U is a Proprietary Laboratory Analyses (PLA) code that applies exclusively to the Praxis Combined Whole Genome Sequencing and Optical Genome Mapping test performed by Praxis Genomics LLC. The test combines next-generation sequencing (NGS) whole genome sequencing (WGS) with optical genome mapping (OGM) to identify single-nucleotide and structural chromosomal variants that may aid in diagnosing rare constitutional or other heritable disorders.
Service Type: Laboratory — combined whole genome sequencing and optical genome mapping
Typical Site of Service: Clinical laboratory or reference diagnostic laboratory using a blood specimen
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Clinical & Coding Specifications
Clinical Context
A child or adult with suspected rare constitutional or heritable disorder is evaluated after standard diagnostic testing (karyotype, microarray, targeted gene panels) fails to explain the clinical phenotype. The clinician orders the Praxis Combined Whole Genome Sequencing and Optical Genome Mapping test (0267U) on a peripheral blood specimen to detect sequence-level variants across the entire genome via next‑generation sequencing and to identify structural chromosomal variants using optical genome mapping. The typical workflow: outpatient genetics or neurology visits document family history, physical findings (developmental delay, congenital anomalies, dysmorphisms, or unexplained multisystem disease), and prior testing. After informed consent, a blood draw is performed in an ambulatory clinic, hospital outpatient lab, or inpatient setting. The specimen is sent to Praxis Genomics LLC for processing. The laboratory performs combined whole genome sequencing and optical genome mapping, generates an integrated report describing pathogenic or likely pathogenic variants and structural rearrangements, and provides interpretation to the ordering clinician. Results inform diagnosis, genetic counseling, cascade testing, and medical management decisions such as surveillance, referrals, or targeted therapies.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | Default/No modifier | Used when no other modifier applies to the billed service. |
22 | Increased procedural services | Use if the lab documents substantially greater complexity or effort beyond the standard test (rare for PLA codes).
26 | Professional component | Use when reporting only the professional interpretation component if technical component is billed separately.
52 | Reduced services | Use when testing is performed but substantially reduced (partial testing) compared with full service.
53 | Discontinued procedure | Use if specimen collection or testing was started but discontinued for clinical reasons.
62 | Two surgeons/Two physicians | Use when two physician specialists share substantial involvement in interpretation (uncommon for lab tests).
78 | Unplanned return to the operating/procedure room | Not typically applicable; include only if a procedural complication required additional hospital procedures related to specimen collection.
80 | Assistant surgeon | Use if an assistant surgeon participated in specimen procurement that required surgical assistance.
82 | Assistant surgeon (when qualified resident not available) | Similar to 80 when no resident is available for assist during specimen collection procedures.
AS | Physician assistant, nurse practitioner, or clinical nurse specialist services | Use when an advanced practice provider performs specimen collection or orders interpretation under appropriate supervision.
QK | Services furnished by an independent laboratory billing under CLIA | Apply when an independent lab or resource-based contractor provides the professional component (if applicable) and billing rules require contractor modifiers.
QX | Ordering physician-qualified healthcare professional mix | Use when test ordering and specimen collection responsibilities are split between qualified professionals per payer policy.
TC | Technical component | Use when billing only the technical component of the test (sequencing, mapping, lab processing) separate from professional interpretation.
TG | Technical component by a global laboratory or independent diagnostic testing facility | Use when an independent diagnostic testing facility performs the technical work and bills accordingly.
| Taxonomy Code | Specialty | Notes |
|---|---|---|
2080P0208X | Clinical Molecular Geneticist | Physicians who interpret genomic sequencing and structural variant data. |
2081P0200X | Medical Geneticist | Physicians who evaluate inherited disorders and order confirmatory genetic testing.
207Q00000X | Neurology | Neurologists managing patients with unexplained neurodevelopmental disorders or neuromuscular phenotypes.
363L00000X | Clinical Laboratory Geneticist | Laboratory directors responsible for clinical genomic testing and quality assurance.
367A00000X | Pediatrician | Pediatric subspecialists (genetics, neonatology) ordering comprehensive genomic testing for congenital or developmental conditions.
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
Q87.8 | Other specified congenital malformation syndromes affecting multiple systems | Indicates multisystem congenital anomalies where WGS+OGM may identify causative genetic or structural variants. |
Q99.9 | Chromosomal abnormality, unspecified | Used when a suspected chromosomal disorder is the indication; OGM can detect structural rearrangements not seen on karyotype.
F84.0 | Autistic disorder | Developmental disorders with suspected genetic etiology where comprehensive genomic testing can identify contributory variants.
R62.0 | Delayed milestone in childhood | Developmental delay where combined sequencing and structural analysis can reveal diagnostic findings.
G40.9 | Epilepsy, unspecified | Epileptic syndromes with suspected genetic causes often undergo genome sequencing for diagnosis and treatment guidance.
Q90.9 | Down syndrome, unspecified | Structural variant detection and sequence analysis can clarify atypical presentations or complex rearrangements.
E70.0 | Phenylketonuria (classical) | Metabolic hereditary disorders where WGS can identify pathogenic sequence variants when biochemical testing suggests an inborn error of metabolism.
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
36415 | Collection of venous blood by venipuncture | Common specimen collection method for the blood sample sent for 0267U testing. |
86340 | Genetic testing for single gene or multiplex; interpretation and report (example code for similar molecular assays) | Represents single-gene or small panel testing that may be performed before escalation to whole genome sequencing with OGM; used in prior testing workflows.
81425 | Whole exome sequencing (WES), interpretation and report | Alternative comprehensive sequencing approach; WES may precede or be considered alongside whole genome sequencing in diagnostic evaluation.
88271 | Microarray analysis (cytogenomic) interpretation | Chromosomal microarray testing is commonly performed prior to or in parallel with combined WGS/OGM to detect copy number variants.
0064U | Optical genome mapping (example PLA code) | Other PLA codes for optical mapping or specialized genomic assays may be performed in combination or as alternatives; illustrates complementary structural variant testing.
0002U | Whole genome sequencing (example PLA code) | Other PLA WGS codes may be used by different laboratories; 0267U is specific to Praxis Combined WGS and OGM but functionally related to other WGS services.