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    v1.0.28
    OpenPayerPolicy UpdatesOrthopedics/MusculoskeletalAmbetter Nevada Concert Genetic Testing Coverage U…
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    ModifiedAmbetter NevadaPolicy N/A

    Concert Genetic Testing: Orthopedics

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    Defines medical necessity criteria, coding guidance, and examples for genetic testing (single-gene and multigene panels) to diagnose osteogenesis imperfecta and other skeletal dysplasias for members of Ambetter Nevada/Centene-affiliated health plans.

    Policy Summary
    PayerAmbetter Nevada
    PolicyConcert Genetic Testing: Orthopedics
    Policy CodePolicy N/A
    Change TypeMaterial updates to coding and criteria (added molecular CPT codesclarified post‑natal panel)
    Effective DateN/A
    Next Review DateN/A
    Key ActionVerify medical necessity and obtain prior authorization for referenced molecular CPT codes per Health Plan procedures.
    SourceLink

    OpenPayer is powered by Trek Health's payer performance platform. Trek continuously ingests, validates, and normalizes Transparency in Coverage data alongside payer policies and other commercial payer data to create a structured payer intelligence foundation. OpenPayer uses this foundation to deliver personalized search results, dynamically generated policy pages, and tailored policy monitoring based on each user's payers, specialties, billing codes, and areas of interest. The same intelligence powers broader payer performance workflows, including reimbursement benchmarking, contract evaluation, payer negotiations, and financial decision-making.

    POLICY UPDATE CHANGES

    Added CPT codes 81401, 81402, 81403, 81404, 81405, and 81406 to the policy reference table.

    Clarified that multigene panel analysis for skeletal dysplasia is specified as post-natal in the criteria.

    Policy overview and clinical considerations consolidated; title updated to Concert Genetic Testing: Orthopedics.

    Added CPT codes 81401-81407 to the Policy Reference Table.

    81401-81407CPT codes newly added to Policy Reference Table
    42%Diagnostic yield reported in cited study
    771Entries in Nosology (2023)
    552Genes associated in Nosology (2023)
    81400-81408Example CPT code range listed

    Coverage Criteria for Genetic Testing

    inv-01: Osteogenesis Imperfecta

    Covered when ANY of the following clinical features are present (COL1A1/COL1A2 testing or a multigene panel that includes these genes).

    OI clinical indications: Fractures with minimal or no trauma in the absence of other factors (e.g., non-accidental trauma), short stature often with bone deformity, blue/gray scleral hue, dentinogenesis imperfecta, progressive postpubertal hearing loss, ligamentous laxity or other connective tissue signs, family history of OI, fractures of varying ages and stages of healing, 'codfish' vertebrae, wormian bones, protrusio acetabuli, low bone mass or osteoporosis.

    Meets medical necessity for COL1A1 and COL1A2 variant analysis or a multigene panel that includes these genes.

    inv-02: Multigene Panel Analysis for Skeletal Dysplasia or Rare Bone Disorder

    Covered when ALL of the following are met:

    Multigene panel postnatal criteria: A. The differential diagnosis includes more than one type of skeletal dysplasia or bone disorder; AND B. The member displays one or more of the following clinical features: prenatal ultrasound showing long bone shortening (>3 SD below mean) or head circumference >75th percentile; prenatal ultrasound showing bone irregularities (e.g., bowed, fractured, thickened, thin, undermineralized); prenatal ultrasound showing abnormal ribs or small chest; OR postnatal short stature with height/length less than the 3rd percentile.

    Specifies post-natal multigene panel testing; current evidence does not support panel testing for other indications.

    inv-03: Other Covered Skeletal Dysplasias and Rare Bone Disorders

    Genetic testing is considered medically necessary to establish or confirm diagnosis to guide management when the member demonstrates clinical features consistent with the specific disorder.

    Enumerated disorders: Conditions include: Achondroplasia group (achondroplasia, hypochondroplasia, thanatophoric dysplasia); Type II collagenopathies (hypochondrogenesis, spondyloepiphyseal dysplasia); Type XI collagen disorders (fibrochondrogenesis, otospondylomegaepiphyseal dysplasia); sulfation disorders (e.g., achondrogenesis IB, atelosteogenesis II, diastrophic dysplasia, chondrodysplasia with congenital joint dislocations); filamin and similar disorders (atelosteogenesis types I and III, Larsen syndrome, spondylo-carpo-tarsal dysplasia); short-rib dysplasias (including Ellis-van Creveld, short-rib polydactyly syndromes); metaphyseal dysplasias (e.g., cartilage-hair hypoplasia); spondylo-epi-(meta)-physeal dysplasia; acromesomelic, mesomelic/rhizo-mesomelic dysplasias; bent bone dysplasias (campomelic dysplasia, Stuve-Wiedemann, FGFR2-related bent bone dysplasia); slender bone dysplasia (microcephalic osteodysplastic primordial dwarfism, osteocraniostenosis); neonatal osteosclerotic dysplasias (Bloomstrand, Caffey, Raine); increased bone density group (osteopetrosis); abnormal mineralization group (hypophosphatasia); multiple epiphyseal dysplasia and pseudoachondroplasia (MED).

    Policy provides an extensive enumerated list of named conditions appropriate for testing; testing is medically necessary when clinical features consistent with the listed disorder are present.

    inv-04: Not Medically Necessary / Unsupported Indications

    Not supported indications: Current evidence does not support COL1A1/COL1A2 testing or multigene panel analysis that includes these genes to establish or confirm a diagnosis for indications other than those specifically listed in this policy.

    See General Approach to Laboratory Testing for evaluation of other indications.

    inv-05: Updated criteria statements (high-level)

    Policy includes criteria for multigene panel testing for skeletal dysplasia and other rare bone disorders, updated to include post-natal specification and other operational clarifications.

    policy_updates: Updated criteria to specify post-natal indication for multigene panel analysis and revised prior 'Investigational' language to state 'current evidence does not support.' Operational updates include addition of molecular CPT codes (81401-81407) to the Policy Reference Table and other coding/reference updates.

    See full policy for detailed diagnostic criteria and coding guidance.

    Multigene panel analysis to confirm or establish a diagnosis of a skeletal dysplasia or rare bone disorder is not supported for indications other than those specifically listed in the criteria. The policy defines coverage for post-natal multigene panel testing only when the differential includes more than one skeletal dysplasia or bone disorder and the member demonstrates the enumerated clinical features (e.g., prenatal ultrasound findings or post-natal short stature less than 3rd percentile).

    Several prior statements labeled 'Investigational' were revised in the current update to read that current evidence does not support the use of certain tests for indications outside the enumerated criteria. This language change maintains exclusion of those tests where supporting evidence remains insufficient and signals no new coverage for previously investigational uses.

    COL1A1 and COL1A2 variant analysis, and multigene panels that include these genes, are considered medically necessary only for the specific clinical features listed for osteogenesis imperfecta. Current evidence does not support COL1A1/COL1A2 testing or panels that include these genes to establish or confirm a diagnosis for indications outside the enumerated OI clinical scenarios.

    Procedures or tests described in the policy as 'not supported by current evidence' are excluded from coverage. The policy explicitly lists the clinical indications that meet medical necessity and states that testing outside those indications — including multigene panels or single-gene analyses not meeting the stated criteria — remain unsupported and therefore not covered. See the full policy sections for the complete list of specific items and tests.

    Coding and Examples

    Example and common billing CPT/ICD codesmixed
    81400Molecular pathology procedure/NGS - listed in policy as example common billing code
    81401Molecular pathology procedure/NGS - listed in policy reference table
    81402Molecular pathology procedure/NGS - listed in policy reference table
    81403Molecular pathology procedure/NGS - listed in policy reference table
    81404Molecular pathology procedure/NGS - listed in policy reference table
    81405Molecular pathology procedure/NGS - listed in policy reference table
    81406Molecular pathology procedure/NGS - listed in policy reference table / associated with OI panels
    81407Molecular pathology procedure/NGS - listed in policy reference table
    81408Molecular pathology procedure/NGS - listed in policy reference table
    81479Unlisted molecular pathology procedure
    1–10 of 15
    1/2
    Policy Reference Table - molecular CPT codes addedCPT
    81401listed in Policy Reference Table
    81402listed in Policy Reference Table
    81403listed in Policy Reference Table
    81404listed in Policy Reference Table
    81405listed in Policy Reference Table
    81406listed in Policy Reference Table
    81407listed in Policy Reference Table
    Short stature (definition)
    DefinitionHeight/length less than 3rd percentile (or ≥2 standard deviations below the mean) for age and gender.
    ContextUsed in the policy to define postnatal short stature as a clinical feature qualifying for multigene panel testing for skeletal dysplasia.
    Reference guidanceACMG/clinical practice resources referenced for short stature evaluation are cited in the policy rationale.
    Prenatal long bone shortening (definition)
    DefinitionPrenatal long bone shortening: fetal long bone measurements >3 standard deviations below the mean (or at or ≤5th centile raise concern).
    Clinical action

    Provider Responsibilities and Actionable Notes

    Denial Risk

    Coding & coverage risk

    Inclusion or exclusion of CPT/ICD codes and referenced tests in this policy does not guarantee coverage. Providers must verify medical necessity against the policy criteria and submit supporting documentation; failure to meet documented medical necessity or to follow plan billing rules may result in claim denial.

    • Providers should reference current coding guidance prior to claim submission.
    • If CPT molecular codes 81401–81407 are billed, prior authorization processes apply per Health Plan policy.
    • Pretest and post-test genetic counseling is strongly advised; document counseling and informed decision-making in the medical record.
    Documentation Required

    Provider responsibilities and documentation

    Providers are expected to exercise professional medical judgment and are responsible for accurate documentation and billing consistent with contract terms. This policy is not a guarantee of payment; consult the member's benefit documents for coverage limits, exclusions, and requirements.

    Background

    Skeletal dysplasias and rare bone disorders are genetically heterogeneous conditions that can present prenatally or postnatally with a range of skeletal findings. Typical presentations include prenatal ultrasound abnormalities (for example, long-bone shortening, abnormal rib or chest size, or bone irregularities), postnatal short stature (commonly defined as height/length less than the 3rd percentile), limb shortening, bone deformities, fractures with minimal or no trauma, multiple fractures at different stages of healing, blue/gray sclera, dentinogenesis imperfecta, and other radiographic features (e.g., wormian bones, 'codfish' vertebrae). Multigene panels that include relevant genes (for example, COL1A1, COL1A2) increase diagnostic yield when the differential includes multiple possible dysplasias, but testing is limited to the clinical scenarios enumerated in the criteria.

    Definitions

    Non-accidental Trauma (NAT)
    DefinitionNon-accidental Trauma (NAT) — injury purposely inflicted upon a child (e.g., child abuse).
    Epidemiology - fracturesApproximately one-third of NAT cases involve fractures.
    Typical injury patternsNAT often involves skin and soft tissue injury in addition to fractures; consideration of NAT is important when evaluating unexplained fractures in children.
    Non-accidental Trauma (NAT) — clarification
    Restated definitionNon-accidental Trauma (NAT) refers to injury purposely inflicted upon a child (e.g., child abuse).
    Clinical relevanceNAT should be considered in the differential diagnosis for fractures; policy notes fractures may be due to NAT versus underlying bone disorder.
    Policy Summary
    PayerAmbetter Nevada
    PolicyConcert Genetic Testing: Orthopedics
    Policy CodePolicy N/A
    Change TypeMaterial updates to coding and criteria (added molecular CPT codesclarified post‑natal panel)
    Effective DateN/A
    Next Review DateN/A
    Key ActionVerify medical necessity and obtain prior authorization for referenced molecular CPT codes per Health Plan procedures.
    SourceLink
    On This Page
    Coverage Criteria for Genetic TestingCoding and ExamplesProvider Responsibilities and Actionable NotesBackgroundDefinitions
    Fetuses with long bone measurements ≤5th centile or >3 SD below the mean should be evaluated in a center with expertise in skeletal dysplasias.
    Ultrasound elementsAssess and plot fetal cranium, facial profile, mandible, clavicle, scapula, chest circumference, vertebral bodies, all fetal long bones, and hands/feet against normative values.
    • Submit claims consistent with the Health Plan contract and applicable state/federal requirements.
    • When state Medicaid or Medicare NCD/LCD provisions conflict with this policy, the applicable program requirements take precedence.
    Prior Authorization

    Prior Authorization Required

    Prior authorization may be required for certain genetic tests and molecular CPT codes referenced in this policy. Verify PA requirements with the Health Plan before ordering or performing testing to avoid delays or denials.

    • Check the Concert Platform or Health Plan provider portal for specific PA rules and test registries.
    • If a test is added or updated in the Policy Reference Table, follow current prior authorization processes.
    Note

    Not specified — follow Health Plan administrative policies

    If a specific provider action is not detailed elsewhere in this section, follow standard Health Plan administrative policies and the instructions in the member's coverage documents. When in doubt, contact Provider Services or Medical Review for clarification.

    • Use documented medical necessity criteria in this policy when requesting authorization.
    • Retain and furnish clinical records on request to support medical necessity determinations.
    Policy noteAbsence of other causes such as NAT is referenced in the OI criteria when considering COL1A1/COL1A2 testing for fractures with minimal or no trauma.