Summary & Overview
CPT 0413U: Optical Genome Mapping for Hematolymphoid Neoplasia
CPT code 0413U designates a Proprietary Laboratory Analyses (PLA) assay — the DH Optical Genome Mapping/Digital Karyotyping Assay from The Clinical Genomics and Advanced Technology (CGAT) Laboratory at Dartmouth Health and Bionano Genomics. The test uses optical genome mapping to identify aneuploidy, copy number variations, and complex structural DNA rearrangements implicated in hematolymphoid neoplasia, providing high-resolution genomic profiling for blood and bone‑marrow cancers. As a PLA code, 0413U represents a single manufacturer's or laboratory’s unique test and is important for coding precision, prior authorization, and laboratory billing.
Key payers covered in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a national-level overview of the code’s clinical purpose and service context, summaries of payer coverage considerations, and explanations of where the test is typically performed. The publication highlights benchmarks and policy-relevant topics such as coding specificity for proprietary assays, site-of-service implications for laboratory-based genomic testing, and the role of advanced genomic assays in hematology-oncology diagnostic workflows.
Data not available in the input for associated taxonomies, specific ICD-10 mappings, and related billing codes.
Billing Code Overview
CPT code 0413U is a Proprietary Laboratory Analyses (PLA) code that applies to a single, specific laboratory test: the DH Optical Genome Mapping/Digital Karyotyping Assay developed by The Clinical Genomics and Advanced Technology (CGAT) Laboratory at Dartmouth Health and Bionano Genomics. The assay uses optical genome mapping (OGM) to detect aneuploidy, copy number variations (CNVs), and complex structural DNA rearrangements associated with hematolymphoid neoplasia (blood and bone–marrow cancers).
Service type: Diagnostic genetic testing using optical genome mapping.
Typical site of service: Clinical molecular/genomics laboratory with results used for inpatient or outpatient hematology/oncology care.
Data not available in the input for associated taxonomies, ICD-10 diagnoses, and related codes.
Clinical & Coding Specifications
Clinical Context
A 62-year-old patient with newly diagnosed acute myeloid leukemia (AML) presents after abnormal peripheral blood counts and a bone marrow biopsy showing blasts. Standard cytogenetics and fluorescence in situ hybridization (FISH) were inconclusive for complex structural rearrangements. The treating hematologist orders the DH Optical Genome Mapping/Digital Karyotyping Assay (0413U) to detect aneuploidy, copy number variations (CNVs), and cryptic structural variants that may influence prognosis and targeted therapy selection. Peripheral blood or bone marrow aspirate is sent to the Clinical Genomics and Advanced Technology (CGAT) Laboratory at Dartmouth Health or the Bionano Genomics laboratory. The lab receives the specimen, performs optical genome mapping (OGM), analyzes structural variant calls and CNV profiles, and generates a report integrated into the patient’s electronic health record for the oncology team to review. Typical site of service is an inpatient hematology/oncology unit, outpatient oncology clinic, or an affiliated molecular diagnostics reference laboratory. Service type: proprietary laboratory analysis/molecular pathology diagnostic testing for hematolymphoid neoplasia.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | No modifier | Use when no specific modifier applies and full global service is reported |
22 | Increased procedural services | Use when the laboratory documents significantly greater effort or complexity in performing or interpreting the assay |
26 | Professional component | Use when billing only the professional component (interpretation/reporting) separate from the technical component |
52 | Reduced services | Use when the test was partially reduced or not completed and a reduced service is reported |
53 | Discontinued procedure | Use if specimen processing or testing was started but discontinued for documented clinical reasons |
62 | Two surgeons/physicians | Rare for this lab test; used if two physicians share substantive interpretation responsibilities and payer allows |
78 | Unplanned return to the operating/procedure room | Uncommon; use only if related surgical/procedural event required repeat intraoperative testing tied to this assay |
80 | Assistant surgeon | Uncommon; only if an assistant physician’s involvement in specimen acquisition is separately billable |
82 | Assistant surgeon (when qualified resident not available) | Similar to 80 when applicable and documented |
TC | Technical component | Use when billing only the technical component (laboratory processing and analysis) without professional interpretation |
QK | Contractor performed technical component | Use when an independent laboratory contractor performed the technical component under contract |
QX | Ordering physician performed clinical staff services | Use if ordering physician or their clinical staff performed specimen acquisition-related services billable under modifier rules |
QY | Ordering physician performed diagnostic service | Use if the ordering physician performed the diagnostic service in a manner that meets modifier criteria |
SH | Diagnostic clinical laboratory test performed in a CLIA-exempt laboratory | Use when applicable per payer policy (rare for high-complexity molecular assays) |
| Taxonomy Code | Specialty | Notes |
|---|---|---|
| 207RH0000X | Hematology & Oncology | Hematologists/oncologists order and interpret results for hematolymphoid neoplasia |
| 2085P0207X | Molecular Pathology | Laboratory specialists who perform and interpret molecular and genomic assays |
| 207L00000X | Hematology | Physicians managing blood disorders who use genomic mapping for diagnosis and prognosis |
| 207K00000X | Medical Oncology | Oncologists who incorporate structural genomic results into therapeutic planning |
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
C92.0 | Acute myeloblastic leukemia not having achieved remission | OGM identifies structural variants and CNVs that inform prognosis and targeted therapy in AML |
C91.0 | Acute lymphoblastic leukemia, B-cell | Optical genome mapping can detect structural abnormalities relevant to lymphoid leukemias |
C83.9 | Non-follicular lymphoma, unspecified | Structural rearrangements and CNVs in lymphomas may be characterized by OGM in difficult diagnostic cases |
D47.1 | Chronic myeloproliferative disease | OGM can detect complex genomic rearrangements in myeloproliferative neoplasms affecting management |
C90.00 | Multiple myeloma not having achieved remission | OGM may reveal copy number changes and translocations relevant for prognostication in plasma cell neoplasms |
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
80047 | Basic metabolic panel | Pre-analytic and baseline laboratory panel often obtained concurrently in oncology workup |
88384 | Immunohistochemistry, per antibody stain | Performed on bone marrow or tissue biopsies when morphology and IGM results correlate with OGM findings |
81275 | BRCA1 and BRCA2 full sequence analysis (example of molecular sequencing) | Represents adjunct molecular testing; different methodology but conceptually related as a targeted genetic assay |
81599 | Unlisted molecular pathology procedure | Rarely used for novel or unlisted tests; 0413U is the PLA code that supersedes using unlisted code for this specific assay |
88112 | Cytogenetic analysis, bone marrow; full chromosome analysis (karyotype) | Traditional cytogenetics often performed before or alongside OGM to detect large structural chromosomal abnormalities |