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    v1.0.30
    OpenPayerBilling CodesProprietary Laboratory AnalysesCPT cpt-0138u-rnainsight-brca1-brca2-mrna-sequence-analysis
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    CPT 0138U: +RNAinsight™ mRNA Analysis for BRCA1/2

    CPT code 0138U is a Proprietary Laboratory Analyses (PLA) code for the +RNAinsight™ for BRCA1/2 test from Ambry Genetics, an mRNA sequence analysis of the BRCA1 and BRCA2 genes used to improve variant classification in hereditary breast cancer–related disorders; service type: specialized molecular diagnostic laboratory test; typical site of service: outpatient reference laboratory or clinical molecular diagnostics laboratory.

    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 patient with a personal or family history suspicious for hereditary breast and ovarian cancer presents for genetic evaluation. Prior germline DNA testing of BRCA1/BRCA2 returned one or more variants of uncertain significance (VUS) or a likely pathogenic variant with unclear splicing consequences. The clinical team (genetic counselor and ordering physician — often a medical geneticist, oncologist, or breast surgeon) orders the Ambry Genetics +0138U +RNAinsight™ for BRCA1/2 test to perform mRNA sequence analysis from a blood or other appropriate tissue specimen. The lab receives a properly labeled specimen with the completed requisition and clinical indications such as family history of breast/ovarian cancer, early-onset breast cancer, or an identified BRCA variant requiring splicing assessment. The laboratory performs RNA extraction, reverse transcription, targeted amplification and sequencing of BRCA1 and BRCA2 transcripts, and bioinformatic interpretation to clarify the effect of DNA variants on RNA splicing and variant classification. Results are returned to the ordering provider and genetic counselor and are used to refine variant classification, inform risk assessment, cascade testing recommendations for relatives, and guide management decisions such as increased surveillance, risk-reducing surgery consideration, or targeted therapy eligibility when applicable. Typical site of service is an outpatient clinic or genetics center for specimen collection and a certified molecular diagnostic laboratory for test performance. Service type: Proprietary Laboratory Analysis (PLA) — specialized molecular diagnostic test reported in addition to the primary procedure.

    Related CPT Codes

    CPT CodeDescriptionRelationship to This Procedure
    0138U+RNAinsight™ for BRCA1/2 mRNA sequence analysis to improve variant classification (Proprietary Laboratory Analysis)Primary PLA code describing the specific mRNA assay performed by Ambry Genetics; reported in addition to primary procedure codes when applicable.
    81162Targeted genomic sequence analysis panel, somatic mutation, single gene (e.g., BRCA1, BRCA2), sequence analysisMay be billed when DNA-based targeted sequencing of BRCA1/2 is performed as the primary germline or somatic test prior to or alongside RNA analysis for variant identification.
    81161BRCA1 and BRCA2 full gene sequence analysis (if used - example)DNA-based BRCA sequencing codes are commonly part of the workflow that identifies variants needing RNA follow-up; billing depends on assay and payer policy.
    88360Immunohistochemistry or special staining interpretationMay be associated when tissue-based assays or ancillary studies are performed on surgical specimens that also undergo molecular testing; relevance depends on specimen type.
    80502Pharmacogenomic analysis (example)Occasionally related when molecular profiling informs therapeutic decisions in oncology; include only when clinically performed in the same episode of care.

    Related Modifiers

    6 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…
    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…
    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…
    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…

    Related Provider Taxonomies

    8 rows

    Taxonomy Code
    207L00000X
    208D00000X
    207RG0300X
    261QU0200X
    202D00000X
    2251H1200X
    213ER0200X
    171M00000X

    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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