Centene skeletal dysplasia coverage update

Coverage Criteria

Osteogenesis Imperfecta — Medically Necessary Indications

Covered when ALL of the following are met

OI Testing General

OI Clinical Features: Member/enrollee has one or more of: fractures with minimal/no trauma absent other causes including NAT; 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/stages of healing; 'codfish' vertebrae; wormian bones; protrusio acetabuli; low bone mass or osteoporosis
Any single listed feature supports testing

Multigene Panel — Medically Necessary Indications

Covered when ALL of the following are met

Multigene Panel for Skeletal Dysplasia

Clinical Features for Panel: One or more of: prenatal ultrasound with long bone shortening >3 SD below mean; prenatal ultrasound head circumference >75th percentile; prenatal ultrasound bone irregularities (bowed, fractured, thin, undermineralized, etc.); prenatal ultrasound abnormal ribs or small chest circumference; postnatal short stature with height/length <3rd percentile
Any single listed prenatal or postnatal feature supports panel testing

Investigational / Not Covered Indications

Investigational Indications: COL1A1/2 testing and multigene panels to establish or confirm diagnoses are considered investigational for all other indications not meeting the criteria above

Tests outside specified indications are investigational

Other Covered Skeletal Dysplasias and Rare Bone Disorders

Genetic testing to establish or confirm the following disorders is medically necessary when clinical features consistent with the disorder are present

Other Specific Disorders: The policy lists multiple named disorders and groups (e.g., Achondroplasia group; Type II collagenopathies; Type XI collagen disorders; sulfation disorders; filamin disorders; short‑rib dysplasias; metaphyseal dysplasias; spondylo‑epi‑meta‑physeal dysplasia; acromesomelic disorders; bent bone dysplasias; slender bone dysplasia; neonatal osteosclerotic dysplasias; increased bone density group; abnormal mineralization group; multiple epiphyseal dysplasia; hereditary multiple osteochondromas). Testing for these conditions may be covered when clinical features consistent with the disorder are demonstrated

Clinical features for specific disorders may be referenced from GeneReviews, OMIM, ISDS nosology, or similar resources

Multigene Panel Analysis for Skeletal Dysplasia or Rare Bone Disorder

Covered when criteria in the policy are met (overview consolidated with clinical considerations and criteria updated to include post-natal testing).

Multigene panel utility: Multigene panel testing for individuals with suspected skeletal dysplasia or growth disorders demonstrated diagnostic yield in published cohorts (example: 42% diagnostic yield). Multigene panel analysis is a covered indication when the policy criteria are satisfied, including explicit applicability to post‑natal testing and reference to updated multigene CPT codes.

Policy updated to explicitly include post-natal testing and to reference updated CPT codes (81401–81407)

COL1A1/COL1A2 single-gene testing and multigene panels that include these genes are considered investigational for any indication that does not meet the specific medical necessity criteria listed in this policy. The policy explicitly states that COL1A1/2 testing and multigene panel testing are investigational for all other indications not meeting the above criteria.

Examples of covered indications (see full criteria elsewhere in the policy) include testing to establish or confirm osteogenesis imperfecta when the individual has listed clinical features, or multigene panel analysis for suspected skeletal dysplasia when the differential includes more than one disorder and specified prenatal or postnatal features are present. Testing outside those described indications is investigational.

Coverage of tests described in this policy is governed by the member's benefit contract and applicable plan documents. Where state Medicaid provisions conflict with the clinical policy, state Medicaid coverage provisions take precedence and should be followed.

This clinical policy is intended as a guide to medical necessity to assist with coverage determinations and benefit administration. Tests that do not meet the policy's medical necessity criteria or that are not covered under the member's benefit documents may be considered not medically necessary by the plan. Providers must exercise professional judgment and document how proposed testing is consistent with medical necessity and the member's coverage.

Covered Indications

COL1A1 and COL1A2 variant analysis or multigene panels including these genes to establish or confirm osteogenesis imperfecta when affected individuals have specified clinical features.

COL1A1/COL1A2 Testing Indication: COL1A1 and COL1A2 variant analysis or multigene panels that include these genes (e.g., 81408, 81479; panel codes 81406, 81407 where applicable) to establish or confirm osteogenesis imperfecta when the affected individual has one or more of the policy‑listed clinical features (see OI criteria).

Single‑gene or panel testing that includes COL1A1/COL1A2 is acceptable when clinical features are present

Multigene panel analysis to confirm or establish a postnatal diagnosis of skeletal dysplasia or rare bone disorder when differential includes more than one disorder and listed prenatal/postnatal features are present.

Postnatal Multigene Panel Indication: Multigene panel analysis to confirm or establish a postnatal diagnosis of a skeletal dysplasia or rare bone disorder is medically necessary when the differential includes more than one disorder and the member shows one or more of the listed prenatal or postnatal clinical features (prenatal ultrasound long bone shortening >3 SD below mean; prenatal head circumference >75th percentile; prenatal bone irregularities; abnormal ribs or small chest; or postnatal short stature <3rd percentile).

Not Covered / Investigational

COL1A1 and COL1A2 variant analysis (or multigene panels that include these genes) and broader multigene panels are explicitly not covered (investigational) for all indications that do not meet the policy's specified criteria for osteogenesis imperfecta or for multigene panel testing for skeletal dysplasia/rare bone disorders.

The policy excerpt does not list explicit test-type exclusions beyond the investigational language above. Coverage remains subject to the member's benefit limitations, terms and conditions of the coverage documents, and medical necessity determinations made by the plan.

Coding

Referenced CPT and ICD example codesmixed

81400	Molecular pathology procedure level - multigene panel (example listed)
81401	Molecular pathology procedure level - multigene panel (example listed)
81402	Molecular pathology procedure level - multigene panel (example listed)
81403	Molecular pathology procedure level - multigene panel (example listed)
81404	Molecular pathology procedure level - multigene panel (example listed)
81405	Molecular pathology procedure level - multigene panel (example listed)
81406	Targeted genomic sequence analysis panel / molecular pathology (example listed)
81407	Targeted genomic sequence analysis panel / molecular pathology (example listed)
81408	Targeted sequence analysis (e.g., COL1A1, COL1A2) (example listed)
81479	Unlisted molecular pathology procedure (example listed)

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1/2

Policy Reference Table — multigene panel CPT codes addedCPT

81401	Multigene panel, small (specific description as listed in policy reference table)
81402	Multigene panel, moderate (specific description as listed in policy reference table)
81403	Multigene panel, large (specific description as listed in policy reference table)
81404	Multigene sequencing, tiered panel
81405	Multigene sequencing, expanded panel
81406	Multigene/targeted genomic sequence analysis panel (example listed)
81407	Multigene/targeted genomic sequence analysis panel (example listed)

Short stature — definition

Short stature (policy definition)Height/length less than the 3rd percentile (equivalent to >2 standard deviations below the mean)

Measurement basisDefined by standard growth curves as height-for-age less than two standard deviations below average for gender

Clinical significanceUsed as a threshold to support consideration of genetic testing for skeletal dysplasia or related growth disorders

Prenatal long bone measurement thresholds

Long bone measurement threshold (prenatal)Fetuses with long bone measurements at or ≤ the 5th centile or >3 standard deviations below the mean should be evaluated for skeletal dysplasia

Supportive cranial finding

Provider Actions & Prior Authorization

Prior Authorization

Prior Authorization Required

Providers seeking prior authorization should reference the CPT codes listed in this policy as examples when submitting requests. CPT codes included are informational and meant to assist with authorization and claims navigation; they are not exhaustive. Providers must verify and cite the most current CPT coding guidance and the specific CPT codes applicable to the requested test when requesting prior authorization.

Common CPT examples referenced for authorization include multigene panel codes 81400–81408 and 81479 (see Policy Reference Table for codes added 81401–81407).
When requesting prior authorization, include the specific CPT code(s) for the test being ordered and any supporting clinical documentation showing medical necessity.

Prior Authorization

Multigene Panel Prior Authorization

Prior authorization is required for multigene panel testing referenced in this policy. The policy reference table has been updated to include multigene panel CPT codes 81401–81407 (in addition to 81400, 81406–81408, and 81479 as applicable). When ordering multigene panels, providers must indicate the exact panel and CPT code(s) and supply documentation that supports the medical necessity of the panel for the individual member.

Eligibility Requirements

Eligibility for COL1A1/COL1A2 testing to establish or confirm osteogenesis imperfecta requires the presence of one or more of the policy-listed clinical features, such as fractures with minimal or no trauma (after exclusion of non‑accidental trauma and other bone disorders), short stature often with bone deformity, blue/gray sclera, dentinogenesis imperfecta, progressive postpubertal hearing loss, ligamentous laxity, family history of OI, fractures of varying ages, characteristic radiographic findings (e.g., wormian bones), protrusio acetabuli, or low bone mass/osteoporosis.

Eligibility for multigene panel analysis for suspected skeletal dysplasia or a rare bone disorder requires that (A) the differential diagnosis includes more than one type of skeletal dysplasia or bone disorder and (B) the member has one or more specified prenatal or postnatal clinical features (for example, prenatal long bone shortening >3 SD below the mean, prenatal head circumference >75th percentile, prenatal bone irregularities or abnormal ribs/small chest, or postnatal short stature with height/length <3rd percentile).

Policy revisions clarified that multigene panel criteria explicitly include post‑natal testing and the Policy Reference Table was updated to add multigene panel CPT codes (for example, 81401–81407) referenced for panel testing and prior authorization processes.

Background

Skeletal dysplasias are a group of rare genetic disorders affecting bone and joint development. The policy notes an estimated prevalence of about 2.4 per 10,000 births and references more than 350 distinct disorders. Genetic testing identifies causative genes in a substantial proportion of cases and can inform prognosis, management, and recurrence risk; some forms may be suspected prenatally by ultrasound.

Definitions

Non-accidental Trauma (NAT) — definition and context

DefinitionNon-accidental Trauma (NAT) refers to injury that is purposely inflicted upon a child (e.g., child abuse)

Common manifestationsNAT often involves skin and soft-tissue injury; approximately one-third of NAT cases are fractures

Context for genetic evaluationFractures without other causes (including NAT) are a listed clinical feature prompting consideration of genetic testing for osteogenesis imperfecta

Short stature — policy definition (height-for-age)

Short stature thresholdHeight-for-age less than two standard deviations below average for gender (less than the 3rd centile)

Reference standardDemonstrated on standard growth curves as length or height below the 3rd centile

OpenPayer

Concert Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders