Centene genetic testing coverage update

Coverage Criteria

Osteogenesis imperfecta — Covered criteria

Covered when ANY of the listed clinical features are present and testing includes COL1A1 and COL1A2.

OI clinical indications: Member has at least one of the following clinical features: fractures with minimal or no trauma (excluding 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 osteogenesis imperfecta, fractures of varying ages/stages of healing, 'codfish' vertebrae, Wormian bones, protrusio acetabuli, or low bone mass/osteoporosis.

Testing modalities: COL1A1 and COL1A2 variant analysis (e.g., CPT 81408, 81479) or a multigene panel that includes COL1A1 and COL1A2 (e.g., CPT 81406, 81408, 81479).

Osteogenesis imperfecta — Investigational exclusions

Not covered when the clinical features above are absent.

OI investigational: COL1A1 and COL1A2 testing (or multigene panels that include these genes) is considered investigational and not medically necessary for indications other than the clinical features listed for osteogenesis imperfecta.

Multigene panel analysis for skeletal dysplasia or rare bone disorder — Covered criteria

Covered when ALL of the following are met.

Panel diagnostic criteria: A) The differential diagnosis includes more than one type of skeletal dysplasia or rare bone disorder; AND B) The member displays one or more qualifying clinical features of a skeletal dysplasia.

Clinical features that qualify are listed in the companion node.

Clinical features qualifying for panel: Member has one or more of: prenatal ultrasound showing long bone shortening >3 standard deviations below the mean, prenatal head circumference >75th percentile, prenatal ultrasound evidence of bone irregularities (bowed, fractured, thickened, thin, or undermineralized bones), prenatal abnormal ribs or small chest circumference, OR postnatal short stature with height/length <3rd percentile.

Applicable CPT examples: 81400–81408, 81479.

Multigene panel analysis — Investigational exclusions

Not covered when panel criteria are not met.

Panel investigational: Multigene panel analysis to confirm or establish a diagnosis of skeletal dysplasia or a rare bone disorder is considered investigational and not medically necessary for indications that do not meet the specified differential diagnosis and clinical feature criteria.

Other covered skeletal dysplasias and rare bone disorders

Genetic testing to establish or confirm a specific listed disorder is medically necessary when clinical features consistent with that disorder are present.

Listed disorders: Genetic testing is covered to establish or confirm diagnoses for the enumerated skeletal dysplasias and rare bone disorders (examples include achondroplasia and related FGFR3 disorders, Type II collagenopathies, short‑rib dysplasia groups, osteopetrosis, hypophosphatasia, multiple epiphyseal dysplasia, hereditary multiple osteochondromas, and others) when the member demonstrates clinical features consistent with the specific disorder.

Refer to the policy’s enumerated disorder lists and external resources (GeneReviews, OMIM) for disorder‑specific clinical features and testing guidance.

Multigene panel coverage criteria

Covered when clinical or imaging findings strongly suggest a heritable skeletal dysplasia and testing will inform diagnosis or management.

Diagnostic scenarios: Testing is indicated for prenatal cases with long bone measurements ≤5th centile or >3 SD below the mean, or when prenatal imaging shows head circumference >75th percentile, abnormal chest/abdominal circumference ratios suggesting lethality, or other skeletal abnormalities; and for postnatal cases with clinical features such as short stature (<3rd percentile), fractures of varying ages/stages, characteristic radiographic findings (e.g., Wormian bones, protrusio acetabuli), or low bone mass.see supporting measurements

Provide imaging measurements and details to support medical necessity (e.g., fetal long bone percentiles, head circumference, chest/abdominal ratios, growth charts).

Preferred testing approach: When phenotype suggests a heritable skeletal dysplasia, prefer multigene panels that include key genes (e.g., COL1A1, COL1A2, COL2A1, FGFR3) because panels maximize diagnostic yield and limit variants of uncertain significance compared with broader exome‑level testing.N/A

Panels are a cost‑effective first‑line approach when the clinical presentation is consistent with a skeletal dysplasia.

Testing for COL1A1 and COL1A2 (by targeted variant analysis or as part of a multigene panel) is considered investigational and therefore not medically necessary when the member does not meet the listed osteogenesis imperfecta (OI) clinical criteria. The policy specifies OI clinical features that must be documented for medical necessity (for example: fractures with minimal or no trauma excluding non-accidental trauma, short stature with or without deformity, blue/gray sclera, dentinogenesis imperfecta, progressive postpubertal hearing loss, ligamentous laxity, family history of OI, fractures of varying ages, codfish vertebrae, Wormian bones, protrusio acetabuli, or low bone mass/osteoporosis).

Requests for genetic testing that are not supported by the member's clinical documentation or that conflict with the member's benefit terms may be excluded from coverage. Coverage decisions remain subject to the terms, conditions, exclusions, and limitations of the applicable benefit documents and plan-level administrative policies.

Any indication for multigene panel testing or targeted COL1A1/COL1A2 testing that is not described in the policy's covered criteria is considered investigational. For panels, the policy requires that the differential diagnosis include more than one type of skeletal dysplasia or bone disorder and that the member display qualifying prenatal or postnatal features (for example prenatal long-bone shortening >3 SD below the mean or postnatal short stature <3rd percentile).

Tests requested without supporting clinical or imaging evidence (for example absence of the prenatal ultrasound measurements or postnatal growth/radiographic findings required by the criteria) or requests that fall outside applicable plan coverage provisions may be considered not medically necessary and denied. Providers should supply the specific imaging measurements and clinical details called for in the criteria to support medical necessity.

Covered Indications

Diagnostic testing for suspected osteogenesis imperfecta when member has ≥1 listed OI clinical features and testing includes COL1A1 and COL1A2.

Diagnostic testing for suspected osteogenesis imperfecta is covered when the member has one or more listed OI clinical features and testing includes COL1A1 and COL1A2.

OI diagnostic indication: Member has at least one OI clinical feature (see list) and testing consists of COL1A1 and COL1A2 variant analysis or a multigene panel that includes these genes.

CPT examples referenced in policy: 81408, 81479, and multigene panels such as 81406 when including COL1A1/COL1A2.

Multigene panel testing to establish or confirm a postnatal diagnosis of skeletal dysplasia or rare bone disorder when differential includes multiple disorders and member has qualifying prenatal or postnatal features.

Multigene panel testing to establish or confirm a postnatal diagnosis is covered when the differential includes multiple disorders and the member has qualifying prenatal or postnatal features.

Panel indication for postnatal diagnosis: A) The differential diagnosis includes more than one skeletal dysplasia or rare bone disorder; AND B) The member has one or more qualifying prenatal or postnatal features (e.g., prenatal long bone shortening >3 SD, prenatal head circumference >75th percentile, prenatal bone abnormalities, small chest/abnormal ribs, or postnatal short stature <3rd percentile).

Coding

Osteogenesis imperfecta — example codesmixed

81406	NGS panel (example for OI)
81408	Targeted sequencing/analysis (example includes COL1A1/COL1A2)
81479	Unlisted molecular pathology procedure (referenced)
Q78.0	Osteogenesis imperfecta (example ICD)
Z82.79	Family history of other specified conditions (example ICD)

Multigene panel CPT codes referencedCPT

81400	Molecular pathology multigene panel (example)
81401	Molecular pathology multigene panel (example)
81402	Molecular pathology multigene panel (example)
81403	Molecular pathology multigene panel (example)
81404	Molecular pathology multigene panel (example)
81405	Molecular pathology multigene panel (example)
81407	Molecular pathology multigene panel (example)

Example ICD groups usedICD-10

M85	Disorders of bone density and structure (example ICD group)
Q77	Congenital malformations of the musculoskeletal system (example ICD group)
Q78	Other congenital malformations of the musculoskeletal system (example ICD group)

Policy Reference Table — added molecular CPT codesCPT

81401	Molecular pathology procedure, 1-5 exons
81402	Molecular pathology procedure, 6-10 exons
81403	Molecular pathology procedure, 11-20 exons
81404	Molecular pathology procedure, 21-50 exons
81405	Molecular pathology procedure, 51-100 exons
81406	Molecular pathology procedure, 101-250 exons
81407	Molecular pathology procedure, >250 exons

Prenatal long bone shortening — measurement threshold

Threshold> 3 standard deviations below the mean (prenatal long-bone shortening). Krakow guideline: long bone measurements at or ≤5th centile warrant evaluation.

Alternative centile threshold≤ 5th centile (Krakow et al. 2009) — equivalent guidance to >3 SD below mean.

Clinical implicationFetuses with long bone parameters >3 SD below the mean should be strongly suspected of having a skeletal dysplasia and referred for expert evaluation.

Head circumference — prenatal finding

Threshold> 75th percentile head circumference on prenatal ultrasound is a finding suggestive of skeletal dysplasia.

Provider Actions and Operational Notes

Prior Authorization

Prior Authorization Required

Prior authorization may be required for listed CPT codes and for newly added single-gene and small-panel codes. Providers must check the member's benefit plan and use the Concert Platform for registration and authorization requirements prior to ordering testing.

Affected CPT codes include, but are not limited to: 81400–81408, 81479; single-gene/small-panel codes 81401–81407 may require prior auth.
Providers should reference plan rules and the Concert Platform for submission and authorization processes.

Denial Risk

OI Testing Investigational for Other Indications

Testing of COL1A1 and COL1A2 (single-gene analysis 81408, 81479 or panels that include these genes) is investigational when requested for indications other than the specific clinical features listed in the OI criteria. Claims for COL1A1/COL1A2 testing that do not document the required clinical criteria may be denied as investigational.

Eligibility Requirements

No additional top-level eligibility requirements are specified in the provided excerpt.

Not Covered / Investigational

Testing performed for indications other than those explicitly listed in the policy's covered criteria is considered investigational and therefore not covered. This includes COL1A1/COL1A2 testing when OI clinical features are absent and multigene panel analysis when the required differential diagnosis and qualifying prenatal or postnatal findings are not present.

The excerpt does not enumerate explicit test-specific exclusions; however, testing requests that lack clinical justification or that are inconsistent with benefit coverage limits may be denied. Providers should confirm benefit coverage and submit the clinical and imaging documentation specified in the policy (e.g., prenatal ultrasound measurements or postnatal growth and radiographic findings) to support a claim for coverage.

Background

Skeletal dysplasias are a group of rare genetic bone and joint disorders (more than 350 distinct conditions) that may be detected prenatally or postnatally. Genetic testing can establish an underlying molecular diagnosis, inform prognosis, recurrence risk counseling, and management decisions, and in some conditions identify targeted therapy options. Distinguishing osteogenesis imperfecta from non-accidental trauma requires integration of clinical history, imaging, and the specific features listed in the policy (for example fractures with minimal trauma, Wormian bones, or other radiographic signs); when OI is suspected, testing that includes COL1A1 and COL1A2 is preferred.

Definitions

Non-accidental Trauma (NAT)

DefinitionNon-accidental Trauma (NAT): injury purposely inflicted upon a child (child abuse).

EpidemiologyApproximately one-third of NAT cases are fractures.

Clinical relevanceDistinguishing NAT from genetic bone disorders (e.g., OI) requires integrated history, imaging, and clinical features.

Wormian bones

DefinitionWormian bones: sutural bones 6 mm by 4 mm or larger, in excess of ten in number, often in a mosaic pattern.

Diagnostic noteWormian bones are suggestive of osteogenesis imperfecta but are not pathognomonic.

Interpretation

OpenPayer

Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders — Coverage Criteria