Concert Genetic Testing: Orthopedics
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Criteria and coding guidance for Concert genetic testing panels and targeted tests to establish or confirm diagnoses of osteogenesis imperfecta and other skeletal dysplasias for members of Arizona Complete Health (Centene-affiliated health plans). Applies to providers ordering genetic testing for these conditions.
Added CPT codes 81401, 81402, 81403, 81404, 81405, 81406, 81407 to the policy reference table.
Clarified Multigene Panel Analysis criterion to specify 'post-natal' diagnosis.
Policy overview and Clinical Considerations were consolidated into the Overview section and minor rewording performed throughout; coding, reference table, background and references updated.
Policy name changed from 'Concert Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders' to 'Concert Genetic Testing: Orthopedics'.
'Investigational' policy statements were restated to 'current evidence does not support.'
Coverage Criteria for Genetic Testing — Orthopedics
inv-01: Osteogenesis Imperfecta
Covered when ALL of the following are met
OI Testing - eligibility
- Qualifying clinical features for OI: 1. Fractures with minimal or no trauma in the absence of other factors (e.g., non-accidental trauma) ; 2. Short stature, often with bone deformity; 3. Blue/gray scleral hue; 4. Dentinogenesis imperfecta; 5. Progressive, postpubertal hearing loss; 6. Ligamentous laxity or other signs of connective tissue abnormality; 7. Family history of OI; 8. Fractures of varying ages and stages of healing (often of the long bones); 9. 'Codfish' vertebrae; 10. Wormian bones; 11. Protrusio acetabuli; 12. Low bone mass or osteoporosis.
inv-02: Multigene Panel Analysis For Skeletal Dysplasia Or Rare Bone Disorder
Multigene panel analysis to confirm or establish a post-natal diagnosis may be considered medically necessary when ALL of the following are met
Multigene panel criteria
- A: Differential diagnosis: The differential diagnosis includes more than one type of skeletal dysplasia or bone disorder.
B: Clinical features
- Prenatal features: 1. Prenatal ultrasound showing shortening of long bones >3 standard deviations below the mean (or <=5th centile per guideline); 2. Prenatal head circumference >75th percentile; 3. Prenatal bone irregularities (bowed, fractured, thickened, thin, undermineralized); 4. Prenatal abnormal ribs or small chest circumference.
- Postnatal feature: Postnatal short stature with height/length less than 3rd percentile (definition per ACMG/Seaver guidance).
inv-03: Other Covered Skeletal Dysplasias and Rare Bone Disorders
Genetic testing to establish or confirm diagnosis is considered medically necessary when the member demonstrates clinical features consistent with the specific disorder
inv-04: Updated genetic testing criteria (summary)
Summary of reorganized criteria and routing to multigene vs targeted testing
Operational edits and code additions noted in policy revisions.
Current evidence does not support variant analysis or multigene panel analysis that includes COL1A1 and COL1A2 (for osteogenesis imperfecta) or multigene panel analysis for skeletal dysplasia/rare bone disorder to establish or confirm a diagnosis for indications other than those explicitly listed in the coverage criteria. This aligns with the policy language that limits medical necessity to the clinical features and differential scenarios described for each condition.
Specifically, for OI the policy states that COL1A1/COL1A2 testing is medically necessary only when the member demonstrates one or more qualifying clinical features; otherwise testing that includes these genes is not supported. Likewise, multigene panels for skeletal dysplasia or rare bone disorders are considered medically necessary only when the differential includes more than one disorder and the member meets the prenatal or postnatal clinical feature thresholds described.
Throughout the policy, statements that were previously labeled as "Investigational" have been reworded to state that "current evidence does not support." This editorial change clarifies that tests lacking sufficient supporting evidence are not covered rather than implying an experimental status, and it standardizes coverage language across sections of the document.
Testing performed for indications outside the specific clinical scenarios listed in the policy (for example, ordering COL1A1/COL1A2 analysis or multigene panels when the member does not meet the listed OI features or the multigene panel criteria) is considered not supported by current evidence and therefore not medically necessary.
Providers should ensure the clinical documentation demonstrates the applicable qualifying features (e.g., the OI feature list, prenatal ultrasound findings, or postnatal short stature <3rd percentile) before submitting a request for authorization or claim for these genetic tests.
The policy restates investigational phrasing uniformly as "current evidence does not support" in order to make coverage determinations clearer and to indicate that lack of coverage is based on insufficient evidence to support medical necessity rather than on an investigational label.
Coding and Diagnosis References
| 81400 | Multigene panel CPT code (as listed) |
| 81401 | Multigene panel CPT code (as listed) |
| 81402 | Multigene panel CPT code (as listed) |
| 81403 | Multigene panel CPT code (as listed) |
| 81404 | Multigene panel CPT code (as listed) |
| 81405 | Multigene panel CPT code (as listed) |
| 81406 | Multigene panel CPT code (as listed) |
| 81407 | Multigene panel CPT code (as listed) |
| 81408 | Multigene panel CPT code (as listed) |
| 81479 | Unlisted molecular pathology code (as listed) |
| COL1A1/COL1A2 | Genes often tested for Osteogenesis Imperfecta (gene-level) |
Provider Requirements, Authorization, and Documentation
Obtain prior authorization for listed multigene and targeted genetic test CPT codes
Multigene panels and targeted molecular/genetic tests listed in the policy (including CPT codes 81400–81408 and 81479) are subject to the policy's medical necessity criteria and require authorization per Health Plan procedures before testing is performed.
- Applies to multigene panel and targeted tests when criteria are met.
- Reference the Policy Reference Table and Concert Platform for registered tests and billing codes.
Prior authorization requirement applies to newly added CPTs 81401–81407
CPT codes 81401–81407 were added to the Policy Reference Table; these newly listed molecular/genetic CPT codes are also subject to prior authorization per Health Plan procedures.
- Include these CPTs (81401–81407) when requesting authorization or submitting claims.
- Follow plan-level prior authorization workflows for these codes.
No step therapy specified
The policy specifies no step therapy requirements for genetic testing for skeletal dysplasias or rare bone disorders.
- No prerequisite tests or stepwise authorization steps are required by this policy.
Follow operational coding and reference-table guidance
Operational and administrative guidance (e.g., coding and reference-table updates) is maintained in the Policy Reference Table and Concert Platform; providers should consult those operational resources and plan procedures when ordering, authorizing, and billing tests.
- Reference the Policy Reference Table for updated code entries and the Concert Platform for registered tests.
- Follow Health Plan procedures for authorization and billing.
Document pretest and post-test genetic counseling and plan for returning results
Document pretest and post-test genetic counseling that facilitates informed decision-making, addresses the possibility of secondary/incidental findings, and includes a plan for returning results; this counseling should be recorded in the medical record prior to testing when possible.
- Counseling should address secondary/incidental findings and plan for result disclosure.
- Documentation of counseling should be included with authorization requests and the medical record.
Ensure documentation and claims align with plan-level rules and state/Medicare requirements
Submit claims and supporting documentation consistent with this clinical policy, the Policy Reference Table, and applicable Health Plan administrative policies; for Medicaid or Medicare members, follow state Medicaid manuals and applicable NCDs/LCDs where they take precedence.
- Ensure claims use the codes listed in the Policy Reference Table and Concert Platform.
- When state Medicaid provisions or Medicare NCD/LCDs conflict with this policy, follow those authoritative sources.
Risk of denial when tests do not meet specified medical necessity criteria
Tests that do not meet the policy's medical necessity criteria risk denial — for example, ordering a multigene panel when the differential includes only a single disorder or when the listed clinical features are not present may be denied.
- Multigene panel testing requires the differential to include more than one type of skeletal dysplasia and at least one listed clinical feature (prenatal or postnatal) to meet criteria.
- Tests ordered for indications outside the listed clinical features are considered not supported by current evidence and may be denied.
Coverage subject to plan terms, exclusions, and state/Medicare rules — denial risk may result
Coverage and payment decisions are subject to the Health Plan's terms, conditions, exclusions, and limitations; discrepancies with state Medicaid provisions or Medicare NCD/LCDs take precedence and can affect coverage determinations.
- Coverage is not guaranteed by inclusion of codes; follow evidence of coverage and plan documents.
- Review state Medicaid manuals and CMS NCD/LCDs for members where those authorities prevail.
Background and Scope
This policy addresses genetic testing to establish or confirm diagnoses of rare skeletal dysplasias and other bone disorders for members of Arizona Complete Health, including targeted testing for COL1A1 and COL1A2 (osteogenesis imperfecta) and multigene panels for broader skeletal dysplasia differentials.
Multigene panels that include key genes may be considered medically necessary when the clinical context meets the policy thresholds — for example, when the differential diagnosis includes more than one skeletal dysplasia and the member has qualifying prenatal ultrasound findings (e.g., long bone shortening >3 standard deviations below the mean or head circumference >75th percentile) or postnatal short stature (height/length <3rd percentile).
Providers should follow plan procedures for prior authorization of the listed CPT codes and document the clinical features that meet the policy criteria when ordering testing for Arizona Complete Health members.
Definitions
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