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    OpenPayerBilling CodesProprietary Laboratory AnalysesCPT cpt-0469u-irisight-cnv-whole-genome-fetal-analysis
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    CPT 0469U: IriSight™ Whole Genome CNV Analysis for Fetal Samples

    CPT code 0469U is a Proprietary Laboratory Analyses (PLA) code for the IriSight™ CNV Analysis from Variantyx Inc., a whole genome sequencing–based genetic test performed on fetal samples to detect copy number variants, aneuploidies, structural chromosomal abnormalities, and other genomic alterations; the diagnostic report integrates findings with available maternal and paternal samples and assesses for maternal cell contamination to aid variant interpretation. Service type: genetic testing / whole genome sequence analysis. Typical site of service: specialized clinical molecular or genetics laboratory (may be ordered by prenatal care providers and performed in a reference lab).

    For related coverage guidance, see recent payer policy updates: Prenatal (Fetal) Diagnostic Testing, Oral Cancer Screening and Testing, RTM Testing for Alpha-1 Antitrypsin Deficiency.

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    Clinical & Coding Specifications

    Clinical Context

    A pregnant patient undergoes genetic evaluation after abnormal prenatal screening or ultrasound findings suggestive of chromosomal imbalance (for example, fetal structural abnormalities, growth restriction, or increased risk on noninvasive prenatal testing). A maternal-fetal medicine specialist or obstetrician orders the IriSight™ CNV Analysis (0469U) when whole genome sequencing-based copy number variant (CNV) analysis on a fetal sample (amniotic fluid, chorionic villus sample, or fetal blood) is needed to detect deletions, duplications, aneuploidies, and other structural chromosomal abnormalities. The clinical workflow includes sample collection at the outpatient or hospital ambulatory setting; specimen shipment to Variantyx Inc.; laboratory receipt and whole genome sequencing with bioinformatic CNV calling; integration of fetal results with available parental samples to determine inheritance and to assess for maternal cell contamination; generation of a diagnostic report summarizing clinically significant CNVs and interpretation; and transmission of results to the ordering clinician for counseling and management decisions. Typical sites of service are outpatient clinics, maternal-fetal medicine centers, hospital ambulatory surgical units, and specialized prenatal diagnostic laboratories. Indications include suspected chromosomal disorders, abnormal ultrasound findings, family history of chromosomal rearrangements, or confirmation after abnormal screening tests.

    Related CPT Codes

    CPT CodeDescriptionRelationship to This Procedure
    59000Sampling of amniotic fluid (amniocentesis)Performed to obtain fetal DNA sample prior to 0469U testing when indicated
    59160Percutaneous umbilical cord blood sampling (PUBS)Alternative fetal sampling method when amniocentesis or CVS is not suitable; provides fetal blood for genomic testing
    59840Induced labor for fetal anomaly or intrauterine fetal demiseMay be part of clinical management following diagnostic results; related downstream obstetric procedure
    81420Molecular pathology procedure, genomic sequence analysis (eg, whole exome)Other sequencing codes that may be ordered in parallel or as alternative genomic analyses; complementary test in diagnostic workflow
    88291Chromosome analysis, constitutional (karyotype), binned or bandingTraditional cytogenetic test that may be performed alongside or prior to 0469U for structural chromosome evaluation
    88237FISH, using probe(s) for specific chromosomal region(s)Targeted test to confirm or clarify copy number findings identified by genome-wide CNV analysis

    Related Modifiers

    7 rows

    ModifierDescriptionWhen to Use
    26Modifier 26 (Professional Component) identifies and bills only the professional portion of a split service — the physician’s interpretation, report, and medical judgment — when the technical…- Use CPT Modifier -26 when you are billing only the professional component (PC) of a split‑bill eligible service—i.e., you performed the physician interpretation, medical judgment and prepared a…
    52Modifier ‑52 (Reduced Services) indicates that a service or procedure was partially reduced or omitted at the provider’s discretion, allowing reporting of the basic procedure number with a qualifier…- Use modifier -52 when a physician or qualified health professional electively reduces or omits part of a procedure or service (for example, performing fewer required views or omitting a portion of…
    53Modifier 53 (Discontinued Procedure) signals that a surgical or diagnostic service was begun by the physician but terminated because of extenuating circumstances that threatened the patient’s…- Use modifier -53 when a physician/qualified healthcare professional has started a surgical or diagnostic procedure (e.g., anesthesia administered, incision or scope insertion) and then discontinues…
    62Modifier 62 indicates that two surgeons function as co‑surgeons, each performing distinct parts of the same primary surgical procedure. It is appended to the primary procedure code (and any…- Use modifier -62 when two surgeons act as co‑surgeons (both primary surgeons) on a single definitive primary procedure, each performing distinct parts of the same surgical procedure (append -62 to…
    78CPT modifier -78 indicates an unplanned, related return to the operating or procedure room by the same provider during the global postoperative period. It is appended when treatment for a…- Use modifier -78 when an unplanned, related complication during the original procedure’s global postoperative period requires the patient to return to a formal operating or procedure room and the…
    80CPT® Modifier 80 (Assistant Surgeon) is appended to a surgical CPT code when a physician (MD or DO) provides full, continuous assistance throughout the operative procedure. It is intended only for…- Use CPT Modifier -80 when a physician (MD or DO) serves as an assistant surgeon and provides full, continuous assistance throughout the entire operative procedure; append -80 to the surgical CPT…
    82Modifier 82 is appended to a surgical CPT code to indicate that an attending physician acted as an assistant because a qualified resident surgeon was unavailable. In teaching hospitals it documents…- When to use: Append modifier 82 in teaching-hospital settings to indicate a physician served as an assistant surgeon because a qualified resident surgeon was unavailable (includes situations where…

    Related Provider Taxonomies

    8 rows

    Taxonomy Code
    208D00000X
    207Q00000X
    208000000X
    2084P0800X
    273Y00000X
    152WC0802X
    207LH0002X
    364SP0807X

    Related ICD-10-CM Codes

    15 rows

    ICD-10-CM CodeDescription
    O09.01Supervision of pregnancy with history of infertility, first trimester
    O09.02Supervision of pregnancy with history of infertility, second trimester
    O09.11Supervision of pregnancy with history of ectopic pregnancy, first trimester
    O09.12Supervision of pregnancy with history of ectopic pregnancy, second trimester
    O09.211Supervision of pregnancy with history of pre-term labor, first trimester
    O09.212Supervision of pregnancy with history of pre-term labor, second trimester
    O28.0Abnormal hematological finding on antenatal screening of mother
    P04.49Newborn affected by maternal use of other drugs of addiction
    Z31.89Encounter for other procreative management
    Z33.1Pregnant state, incidental

    Showing 1–10 of 15

    Related Payer Policy Updates

    Specialty: Genetic & Molecular Testing1 / 3

    10 rows

    PolicyPayerEffective Date
    Prenatal (Fetal) Diagnostic TestingBlue Cross Blue Shield - Rhode Island2027-01-01
    Oral Cancer Screening and TestingOscar Health2027-01-01
    RTM Testing for Alpha-1 Antitrypsin DeficiencyOscar Health2027-01-01
    Cytochrome P450 Genotype-Guided Treatment Strategy Corporate Medical Policybcbsvermont2027-01-01
    Polygenic Risk ScoreBlue Cross Blue Shield - Rhode Island2026-12-01
    Gene Expression Profiling for Cutaneous MelanomaBlue Cross Blue Shield - Rhode Island2026-12-01
    Genetic Testing for Diagnosis and Management of Mental Health ConditionsBlue Cross Blue Shield - Rhode Island2026-11-01
    Molecular Testing in the Management of Pulmonary NodulesBlue Cross Blue Shield - Rhode Island2026-11-01
    Genetic Testing for Hereditary Cancer (for North Carolina Only)Colorado Rocky Mountain Health Plans2026-10-01
    Expanded Molecular Testing of Cancers to Select Targeted TherapiesBlue Cross Blue Shield - North Dakota2026-10-01

    Related Codes

    CPT-0001U-PRECISETYPE-HEA-MULTIPLEX-RBC-ANTIGEN-GENOTYPING

    CPT 0001U: PreciseType HEA Erythrocyte Antigen Genotyping

    CPT-0002U-POLYPDX-URINE-METABOLOMIC-ASSAY-ADENOMATOUS-POLYP-RISK

    CPT 0002U: PolypDX™ Urine Metabolomic Risk Assay

    CPT-0003U-OVAR-A-NEXT-GENERATION-OVARIAN-CANCER-RISK-ASSAY

    CPT 0003U: Overa (MIA2G) Ovarian Cancer Risk Assay

    CPT-0005U-PROSTATE-EXOSOMEDX-INTELLISCORE-GENE-EXPRESSION-URINE-TEST

    CPT 0005U: ExosomeDx Prostate (IntelliScore) urine gene expression test

    CPT-0007U-TOXPROTECT-URINE-DRUG-SCREEN-WITH-DNA-AUTHENTICATION

    CPT 0007U: ToxProtect Urine Drug Screen With DNA Authentication

    CPT-0008U-H-PYLORI-ANTIBIOTIC-RESISTANCE-SEQUENCING-PANEL

    CPT 0008U: H. pylori Antibiotic Resistance Gene Panel

    CPT-0009U-DEPARRAY-HER2-FISH-TUMOR-CELL-ISOLATION

    CPT 0009U: DEPArray HER2 Tumor‑Cell Isolation with FISH Analysis

    CPT-0010U-BACTERIAL-TYPING-WHOLE-GENOME-SEQUENCING-MAYO-CLINIC

    CPT 0010U: Bacterial Typing by Whole Genome Sequencing, Mayo Clinic

    CPT-0011U-CORDANT-CORE-ALGORITHMIC-ORAL-FLUID-DRUG-TEST

    CPT 0011U: Oral Fluid Drug Test with Algorithmic Steady‑State Comparison

    CPT-0016U-BCR-ABL1-MAJOR-MINOR-FUSION-TRANSCRIPT-TESTING

    CPT 0016U: BCR–ABL1 Major and Minor Breakpoint Fusion Transcripts

    Showing 1–10 of 536

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    Frequently Asked Questions

    References

    1. 1.CPT® Codes and Descriptions. AAPC. Retrieved Aug 11, 2026.Maintains the CPT code set's official descriptions and guidelines, licensed from the American Medical Association, used as the definitional source for CPT codes on this page.
    2. 2.HCPCS Quarterly Update. Centers for Medicare & Medicaid Services (CMS). Retrieved Aug 11, 2026.CMS's quarterly release of HCPCS Level II codes and short/long descriptors, the source for HCPCS code definitions and update history.
    3. 3.ICD-10-CM Full Code List. Centers for Medicare & Medicaid Services (CMS). Retrieved Aug 11, 2026.CMS's complete ICD-10-CM diagnosis code list, used to cross-reference diagnosis codes associated with this procedure or service.
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