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    v1.0.30
    OpenPayerBilling CodesProprietary Laboratory AnalysesCPT cpt-0094u-rapid-whole-genome-sequencing-newborns-infants
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    CPT 0094U: Rapid Whole Genome Sequencing for Newborns and Infants

    CPT code 0094U is a Proprietary Laboratory Analyses (PLA) code for the RCIGM Rapid Whole Genome Sequencing test, a high-speed rapid whole genome sequencing assay performed on a single blood specimen to screen for genetic markers of thousands of diseases in newborns and infants with unexplained constitutional or inherited disorders; service type: rapid whole genome sequencing (diagnostic genomic testing); typical site of service: hospital-based laboratory or specialized clinical genetics laboratory (neonatal intensive care unit or inpatient pediatric setting).

    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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    Table of contents

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    Clinical & Coding Specifications

    Clinical Context

    A full-term or preterm newborn admitted to the neonatal intensive care unit (NICU) with unexplained acute encephalopathy, multisystem organ dysfunction, refractory seizures, or a rapidly progressive metabolic crisis undergoes urgent genetic evaluation. The infant has non-diagnostic standard metabolic screening, neuroimaging showing diffuse abnormalities, and an unclear etiology despite initial workup. The clinical team submits a single blood specimen for rapid whole genome sequencing using the RCIGM Rapid Whole Genome Sequencing test reported with 0094U. The laboratory performs high-speed sequencing and bioinformatic analysis, returning pathogenic or likely pathogenic variants that may explain the clinical presentation within a shortened turnaround time to guide therapy, prognosis, and family counseling. Typical workflow steps: order placement by neonatologist or pediatric geneticist; blood draw (EDTA tube) and specimen shipment per RCIGM instructions; sequencing, variant interpretation, and confirmation as required; result report delivered to ordering clinician; multidisciplinary review of findings for treatment decisions and genetic counseling.

    Related CPT Codes

    CPT CodeDescriptionRelationship to This Procedure
    81415Exome sequencing (including genomic sequence analysis), clinical diagnostic, interpretation and reportMay be ordered when exome sequencing is the chosen diagnostic modality instead of whole genome sequencing; alternate comprehensive genomic test.
    81416Exome or genome sequencing, reanalysis and interpretation when performed after initial analysisUsed for follow-up reanalysis of genomic data if additional interpretation is performed later.
    88249Molecular cytogenetics; other (e.g., chromosomal microarray)Chromosomal microarray is often performed alongside sequencing to detect copy number variants not identified by some sequencing pipelines.
    80053Comprehensive metabolic panelCommon concurrent laboratory testing in critically ill neonates to assess metabolic status during genetic workup.
    99291Critical care, evaluation and management of the critically ill or critically injured patient; first 30-74 minutesUsed by intensivists providing critical care management while genomic testing is pursued and results are acted upon.

    Related Modifiers

    5 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…
    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…
    59Modifier 59 indicates a distinct procedural service when two procedures that are not normally billed together are clinically and procedurally separate. The CPT definition (as reiterated by CMS)…- Use modifier -59 to report a distinct procedural service when documentation supports that the procedure reported is not normally billed together with another service on the same day because of a…
    22Modifier –22 (Increased Procedural Services) is used when a reported procedure is substantially more extensive than normally required. The CPT Manual and CMS state it may be appended only when the…- When to use: Append modifier -22 to a procedural CPT code when the service performed is substantially more extensive than the usual service described by that code — i.e., the procedure required…
    33Modifier 33 was created by the American Medical Association in response to the Affordable Care Act to identify services provided for preventive intent. It is appended to CPT/HCPCS codes that could be…- Use modifier -33 when a CPT/HCPCS service that can be billed as either preventive or diagnostic/treatment is provided with preventive intent and aligns with USPSTF A or B recommendations or other…

    Related Provider Taxonomies

    8 rows

    Taxonomy Code
    207Q00000X
    207L00000X
    363A00000X
    101200000X
    251J00000X
    2080P0214X
    133VN1301X
    332H00000X

    Related ICD-10-CM Codes

    18 rows

    ICD-10-CM CodeDescription
    E70.0Classical phenylketonuria
    F82Specific developmental disorder of motor function
    G40.909Epilepsy, unspecified, not intractable, without status epilepticus
    G80.9Cerebral palsy, unspecified
    P04.2Newborn affected by maternal use of tobacco
    P07.21Extreme immaturity of newborn, gestational age less than 23 completed weeks
    P07.22Extreme immaturity of newborn, gestational age 23 completed weeks
    P07.30Preterm newborn, unspecified weeks of gestation
    P07.31Preterm newborn, gestational age 28 completed weeks
    P07.39Preterm newborn, gestational age 36 completed weeks

    Showing 1–10 of 18

    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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