Summary & Overview
CPT 0300U: Combined Whole Genome Sequencing and Optical Genome Mapping
CPT code 0300U designates a proprietary laboratory test — Praxis Somatic Combined Whole Genome Sequencing and Optical Genome Mapping — that pairs next‑generation whole genome sequencing with optical genome mapping to detect both sequence variants and structural rearrangements in paired normal and tumor specimens. This hybrid approach is intended to improve genomic characterization of cancer samples and support diagnostic and therapeutic decision making at a national level. Major payers included in this analysis are Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise explanation of the clinical and technical scope of the test, the typical sites of service, and which payers are evaluated. The publication summarizes payer coverage approaches and benchmarks, highlights relevant policy updates affecting proprietary PLA codes, and provides clinical context for when combined WGS and OGM may be used. Where payer-specific policy details or additional billing elements are unavailable, the report notes that data are not available in the input. The goal is to inform billing, coding, and policy stakeholders about the role of CPT code 0300U in genomic oncology testing and payer coverage landscapes.
Billing Code Overview
CPT code 0300U is a Proprietary Laboratory Analyses (PLA) code that applies to a single, manufacturer‑specific laboratory test: Praxis Somatic Combined Whole Genome Sequencing and Optical Genome Mapping from Praxis Genomics LLC. The test evaluates paired normal and malignant (tumor) specimens from the patient, such as blood, bone marrow, or frozen tissue. The procedure combines whole genome sequencing (WGS) via next‑generation sequencing (NGS) and optical genome mapping (OGM) to identify sequence-level and structural genomic variants that can inform diagnosis and treatment of various cancers.
Service type: Laboratory — combined molecular genomic sequencing and optical genome mapping.
Typical site of service: Clinical laboratory or specialized molecular diagnostics laboratory processing specimens collected from inpatient or outpatient settings; specimen sources include blood, bone marrow, or frozen tissue.
Clinical & Coding Specifications
Clinical Context
A 62-year-old patient with newly diagnosed acute myeloid leukemia (AML) undergoes biopsy of tumor tissue and peripheral blood sampling to guide personalized therapy. The clinician orders the Praxis Somatic Combined Whole Genome Sequencing and Optical Genome Mapping test (0300U) to evaluate paired normal (blood) and malignant (bone marrow or frozen tissue) specimens. Specimens are collected in an outpatient oncology clinic or inpatient hematology unit and shipped to Praxis Genomics LLC. Laboratory processing uses next-generation sequencing (NGS) for whole genome sequencing and optical genome mapping (OGM) to detect structural variants. The resulting integrated genomic report identifies single-nucleotide variants, copy number alterations, and structural rearrangements to inform diagnosis, prognostic stratification, and targeted therapy planning. Typical workflow steps: specimen collection (blood, bone marrow aspirate, or frozen tumor), specimen labeling and accessioning, shipment to the reference lab, NGS and OGM testing, bioinformatic analysis, and delivery of a clinically annotated report to the treating oncologist for multidisciplinary review and treatment selection.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | No modifier — standard reporting | Use when no special circumstances apply to the service. |
22 | Increased procedural services | Use if the laboratory provides substantially greater effort or complexity (rare for PLA tests; use only if payer allows). |
26 | Professional component | Use when only the professional component (interpretation) is billed separately from technical processing. |
52 | Reduced services | Use when the full service is not performed and a reduced service is documented. |
53 | Discontinued procedure | Use if testing was started but discontinued for documented clinical reasons prior to completion. |
62 | Two surgeons/qualified providers | Use if two independent physicians share responsibility for test interpretation in accordance with payer policy. |
78 | Unplanned return to the operating/procedure room | Uncommon; use only if an unexpected procedural complication necessitates repeat specimen collection intraoperatively. |
80 | Assistant surgeon | Use if an assistant surgeon/physician is separately billing for participation in specimen procurement per payer rules. |
82 | Assistant surgeon when qualified resident not available | Use when a qualified assistant bills in absence of resident coverage during specimen procurement. |
AS | Physician assistant, nurse practitioner, or clinical nurse specialist services | Use when mid-level practitioners perform specimen collection or interpretation per payer policy. |
| Taxonomy Code | Specialty | Notes |
|---|---|---|
| 208000000X | Hematology & Oncology | Hematologists and medical oncologists order and act on results for hematologic and solid tumors. |
| 207RC0000X | Anatomic/Clinical Pathology | Pathologists interpret genomic data and coordinate tissue handling and diagnostic integration. |
| 208000000X | Medical Oncology | Medical oncologists use genomic results for targeted therapy and clinical trial selection. |
| 363L00000X | Clinical Laboratory | Laboratory directors and molecular diagnostics specialists oversee testing, quality, and reporting. |
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
C92.0 | Acute myeloblastic leukemia with minimal differentiation | AML subtypes commonly undergo comprehensive genomic profiling to identify actionable mutations and structural variants. |
C92.1 | Acute promyelocytic leukemia (APL) | Specific fusion events and structural rearrangements detectable by OGM and WGS are critical for diagnosis and therapy selection. |
C90.0 | Multiple myeloma | Genomic structural variants and copy number changes inform prognosis and therapeutic decisions in plasma cell neoplasms. |
C83.9 | Non‑Hodgkin lymphoma, unspecified | Lymphoid malignancies often require genomic profiling to identify driver mutations and translocations. |
C50.9 | Malignant neoplasm of breast, unspecified | Solid tumors may be evaluated with whole genome sequencing and OGM to detect complex structural variants guiding targeted therapy. |
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
0300U | Praxis Somatic Combined Whole Genome Sequencing and Optical Genome Mapping — proprietary PLA | Primary test code for combined WGS and OGM performed by Praxis Genomics LLC; used to report the comprehensive tumor-normal genomic assay. |
80104 | Drug testing, definitive (e.g., gas chromatography, mass spectrometry); qualitative or quantitative, not otherwise specified | May be performed separately in oncology care for therapeutic drug monitoring; not part of the PLA but used in peri-therapeutic management. |
88360 | Immunohistochemistry, each additional single or multiplex stain | Performed on tissue to complement molecular findings; used before or after genomic testing for diagnostic confirmation. |
88305 | Level IV pathology consultation; surgical pathology, gross and microscopic examination | Tissue processing and histopathology that commonly precede genomic testing to confirm diagnosis and select tumor tissue. |
81479 | Unlisted molecular pathology procedure | Used rarely if a payer requires comparison coding for proprietary tests when no PLA code is accepted; typically not used when 0300U is billable. |