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    v1.0.30
    OpenPayerBilling CodesGenetic Analysis ProceduresCPT cpt-81161-dmd-gene-deletion-duplication-analysis
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    CPT 81161: Dystrophin (DMD) Gene Deletion/Duplication Analysis

    CPT code 81161 reports the technical laboratory procedure for analyzing deletions or possible duplications/repeats in the dystrophin (DMD) gene, a molecular genetics test used to detect exon-level copy number changes; the service is a clinical molecular diagnostic assay performed in a clinical molecular diagnostics laboratory or other certified laboratory setting and typically involves DNA extraction, target-specific analysis, and reporting of detected deletions or duplications in the DMD gene.

    For related coverage guidance, see recent payer policy updates: Oral Cancer Screening and Testing, RTM Testing for Alpha-1 Antitrypsin Deficiency, Cytochrome P450 Genotype-Guided Treatment Strategy Corporate Medical Policy.

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    Clinical & Coding Specifications

    Clinical Context

    A typical patient is a male child or young adult presenting with progressive muscle weakness, delayed motor milestones, frequent falls, and elevated serum creatine kinase. Clinical evaluation by a pediatric neurologist or geneticist includes detailed family history and physical exam suggesting dystrophinopathy. A blood sample is sent to a molecular genetics laboratory for deletion/duplication analysis of the dystrophin (DMD) gene using techniques such as multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridization. The lab analyst performs the technical assay described by 81161, identifies exon deletions or duplications, and generates a technical report. The geneticist interprets results in the clinical context, informs the family, and documents findings in the medical record. Typical sites of service include outpatient hospital laboratories, independent clinical laboratories, and hospital-based molecular pathology labs. Common care pathway steps include sample collection, specimen accessioning, DNA extraction, targeted DMD gene testing (technical component 81161), interpretation, and issuance of a finalized genetic report to the ordering clinician.

    Related CPT Codes

    CPT CodeDescriptionRelationship to This Procedure
    81221Dystrophin (DMD) gene analysis; full gene sequence analysis (e.g., sequencing)Performed when sequencing is required to detect small variants not identified by deletion/duplication testing (81161). Sequencing may follow or complement 81161.
    81479Unlisted molecular pathology procedureUsed for specialized or novel DMD-related molecular tests not otherwise described when additional testing is required beyond standard deletion/duplication analysis.
    88291Microarray analysis, genomic copy number and SNP, constitutionalMay be used when broader chromosomal microarray is performed to evaluate copy number variants, complementary to targeted DMD deletion/duplication testing.
    89399Unlisted specialized pathology service (molecular)Used rarely for laboratory-specific procedures related to DMD testing not covered by existing CPT codes.
    96372Therapeutic, prophylactic, or diagnostic injection (example)Not directly related to 81161 but occasionally appears on the same encounter if concurrent therapies or infusions are administered; use clinical judgment.

    Related Modifiers

    8 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…
    90Modifier ‑90 (Reference/Outside Laboratory) indicates that a laboratory test was performed by an entity other than the treating or reporting provider. The American Medical Association defines…- Use CPT modifier -90 when a laboratory test is performed by an outside/reference laboratory (an entity other than the treating or reporting physician or qualified professional) and the claim needs…
    91Modifier 91 — “Repeat Clinical Diagnostic Laboratory Test” — is appended when the exact same CPT laboratory test is performed more than once for the same patient on the same day because serial,…- Use modifier 91 when the exact same CPT laboratory test is performed more than once on the same patient on the same date because serial or repeated testing is medically necessary to monitor…
    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…
    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…
    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…
    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…

    Related Provider Taxonomies

    8 rows

    Taxonomy Code
    207RH0000X
    2080P0206X
    2085R0203X
    207PH0002X
    283Q00000X
    261QP2300X
    2865M2000X
    207VC0200X

    Related ICD-10-CM Codes

    27 rows

    ICD-10-CM CodeDescription
    E88.40Mitochondrial metabolism disorder, unspecified
    E88.49Other mitochondrial metabolism disorders
    F82Specific developmental disorder of motor function
    F95.9Tic disorder, unspecified
    G71.01Duchenne or Becker muscular dystrophy
    G71.02Facioscapulohumeral muscular dystrophy
    G71.11Myotonic muscular dystrophy
    G71.12Myotonia congenita
    G71.3Mitochondrial myopathy, not elsewhere classified
    G71.8Other primary disorders of muscles

    Showing 1–10 of 27

    Related Payer Policy Updates

    Specialty: Genetic & Molecular Testing1 / 3

    10 rows

    PolicyPayerEffective Date
    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
    Carrier Testing Panels for Genetic Diseases (for Kentucky Only)UnitedHealthcare2026-10-01
    Genetic Testing for Neurological Disorders (for Kansas Only)UnitedHealthcare2026-10-01
    Genetic and Molecular TestingProvidence Health Plan2026-10-01
    Cell-Free Fetal DNA Testing (for Idaho Only)UnitedHealthcare2026-10-01
    Next Generation Sequencing for Minimal Residual Disease DetectionProvidence Health Plan2026-10-01
    Pharmacogenetic Panel Testing (for Kansas Only)UnitedHealthcare2026-10-01
    Non-Covered Genetic Panel TestsProvidence Health Plan2026-10-01

    Related Codes

    CPT-81105-HPA-1-PLATELET-ANTIGEN-1-GENOTYPING-ITGB3-CD61

    CPT 81105: HPA-1 (ITGB3/CD61) Genotyping, Technical Component

    CPT-81106-HPA-2-T145M-GENETIC-ALLELE-ANALYSIS

    CPT 81106: HPA-2 (T145M) Platelet Antigen Genotyping

    CPT-81107-HPA-3-GENETIC-ANALYSIS-TECHNICAL-COMPONENT

    CPT 81107: HPA‑3 (I843S) Platelet Antigen Genotyping

    CPT-81108-HPA-4-R143Q-GENOTYPING

    CPT 81108: HPA-4 (R143Q) Genotyping

    CPT-81109-HPA-5-K505E-GENETIC-ANALYSIS

    CPT 81109: HPA-5 (K505E) Genotyping Test

    CPT-81110-HPA-6-R489Q-GENOTYPING

    CPT 81110: HPA-6 (R489Q) Genotyping, Technical Component

    CPT-81111-HPA-9-V837M-ALLELE-ANALYSIS

    CPT 81111: HPA-9 (V837M) Genotyping, Technical Test

    CPT-81112-HPA-15-GENETIC-ANALYSIS-S682Y

    CPT 81112: HPA-15 (S682Y) Platelet Antigen Genotyping

    CPT-81120-IDH1-MOLECULAR-DIAGNOSTIC-TEST

    CPT 81120: IDH1 Mutation Detection, Technical Component

    CPT-81121-IDH2-MOLECULAR-DIAGNOSTIC-TEST

    CPT 81121: IDH2 Mutation Detection, Technical Component

    Showing 1–10 of 199

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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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