ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Orthopedics

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This policy governs medical-necessity criteria for genetic testing used to establish or confirm osteogenesis imperfecta, skeletal dysplasias, and other rare bone disorders for members receiving orthopedic genetic testing through Ambetter Nevada.

Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Orthopedics

Policy CodePolicy N/A

Change TypeModified

Effective DateMay 1, 2026

Last ReviewNov 1, 2025

Next Review DateN/A

Key ActionSubmit the suspected or confirmed skeletal disorder, relevant clinical findings, family history when applicable, prenatal ultrasound findings when applicable, and testing rationale.

SourceLink

POLICY UPDATE CHANGES

The policy name was changed from Concert Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders to Concert Genetic Testing: Orthopedics during the 11/2025 annual review.

Policy statements previously using the term investigational were revised to state that current evidence does not support the applicable services or indications.

The policy reference table and example tests were updated during the 11/2024 and 11/2025 revisions.

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.

ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Orthopedics

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Sign up for all Ambetter Nevada policy alerts

Know when Ambetter Nevada releases new policies or updates existing guidance.

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Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Orthopedics

Policy CodePolicy N/A

Change TypeModified

Effective DateMay 1, 2026

Last ReviewNov 1, 2025

Next Review DateN/A

Key ActionSubmit the suspected or confirmed skeletal disorder, relevant clinical findings, family history when applicable, prenatal ultrasound findings when applicable, and testing rationale.

SourceLink

POLICY UPDATE CHANGES

The policy name was changed from Concert Genetic Testing: Skeletal Dysplasia and Rare Bone Disorders to Concert Genetic Testing: Orthopedics during the 11/2025 annual review.

Policy statements previously using the term investigational were revised to state that current evidence does not support the applicable services or indications.

The policy reference table and example tests were updated during the 11/2024 and 11/2025 revisions.

3Covered testing categories

12Qualifying OI clinical features

>3 SDPrenatal long-bone threshold

42%Molecular diagnosis rate

71Diagnostic genes identified

Medical Necessity Criteria

Osteogenesis Imperfecta

Covered when testing includes both COL1A1 and COL1A2 and the member has at least one qualifying clinical finding or family history of osteogenesis imperfecta.

OI testing

Qualifying indication: The member has at least one of the following: fractures with minimal or no trauma in the absence of other factors such as non-accidental trauma or another known bone disorder; short stature, often with bone deformity; blue/gray scleral hue; dentinogenesis imperfecta; progressive postpubertal hearing loss; ligamentous laxity or another connective-tissue abnormality; family history of osteogenesis imperfecta; fractures of varying ages and stages of healing; codfish vertebrae; Wormian bones; protrusio acetabuli; or low bone mass or osteoporosis
Any one finding or family history is sufficient

Multigene Panel Analysis for Skeletal Dysplasia or Rare Bone Disorder

Covered when ALL of the following are met.

Multigene panel analysis for skeletal dysplasia or rare bone disorder

Multiple-disorder differential: The differential diagnosis includes more than one type of skeletal dysplasia or bone disordermore than one disorder type
Qualifying prenatal or postnatal feature
- Clinical features: Prenatal ultrasound showed shortening of the bones of the arms or legs more than 3 standard deviations below the mean; prenatal ultrasound showed head circumference greater than the 75th percentile; prenatal ultrasound showed bone irregularities such as bowed, fractured, thickened, thin, or undermineralized bones; prenatal ultrasound showed abnormal ribs or a small chest circumference; or postnatal short stature with height or length less than the 3rd percentile

Other Covered Skeletal Dysplasias and Rare Bone Disorders

Covered when genetic testing is used to establish or confirm a listed disorder, guide management, and the member demonstrates clinical features consistent with the disorder. The list is not comprehensive.

Other covered skeletal dysplasias and rare bone disorders

Listed disorder and consistent phenotype
- Policy-listed disorder: Achondroplasia, hypochondroplasia, or thanatophoric dysplasia; a type II collagenopathy, including hypochondrogenesis or spondyloepiphyseal dysplasia; a type XI collagen disorder, including fibrochondrogenesis or otospondylomegaepiphyseal dysplasia; a sulfation disorder, including achondrogenesis IB, atelosteogenesis II, diastrophic dysplasia, chondrodysplasia with congenital joint dislocations, or SEMD short-limb abnormal-calcification type; a filamin or similar disorder, including atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome, or spondylo-carpal-tarsal dysplasia; a short-rib dysplasia with or without polydactyly, including Ellis-van Creveld syndrome or short-rib polydactyly syndrome types I-IV, including asphyxiating thoracic dystrophy; a metaphyseal dysplasia such as cartilage-hair hypoplasia; a spondylo-epi-(meta)-physeal dysplasia; an acromesomelic disorder such as acromesomelic dysplasia, type Maroteaux; a mesomelic or rhizo-mesomelic dysplasia such as Langer type; a bent-bone dysplasia, including campomelic dysplasia, Stuve-Wiedemann dysplasia, or bent-bone dysplasia FGFR2 type; a slender-bone dysplasia, including microcephalic osteodysplastic primordial dwarfism or osteocraniostenosis; a neonatal osteosclerotic dysplasia, including Bloomstrand dysplasia, infantile Caffey disease, or Raine dysplasia; osteopetrosis; hypophosphatasia; multiple epiphyseal dysplasia or pseudoachondroplasia, including autosomal dominant or autosomal recessive multiple epiphyseal dysplasia or Stickler syndrome; or hereditary multiple osteochondromas

COL1A1 and COL1A2 variant analysis, or a multigene panel that includes both genes, is not supported for establishing or confirming osteogenesis imperfecta when the member does not have one of the policy’s qualifying clinical findings or another supported indication.

Multigene panel analysis for a skeletal dysplasia or rare bone disorder is not supported when the differential diagnosis does not include more than one type of skeletal dysplasia or bone disorder, or when the member lacks at least one qualifying prenatal or postnatal skeletal feature.

Osteogenesis imperfecta genetic testing is not medically necessary for indications unrelated to the listed qualifying findings or a family history of osteogenesis imperfecta. Qualifying findings include characteristic fractures, short stature with bone deformity, blue or gray sclerae, dentinogenesis imperfecta, connective-tissue abnormalities, characteristic skeletal findings, low bone mass, or osteoporosis.

Skeletal dysplasia or rare bone disorder multigene panel testing is not medically necessary for other indications when the policy requirements are not met, including a differential diagnosis involving more than one disorder and at least one qualifying prenatal or postnatal skeletal feature.

Covered Testing Indications

Establishing or Confirming Osteogenesis Imperfecta

Covered for establishing or confirming osteogenesis imperfecta when the testing includes COL1A1 and COL1A2 and the member has a qualifying clinical finding or family history.

Required testing

Qualifying clinical finding or family history: The member has fractures with minimal or no trauma in the absence of other factors such as non-accidental trauma or another known bone disorder; short stature often with bone deformity; blue/gray sclerae; dentinogenesis imperfecta; progressive postpubertal hearing loss; ligamentous laxity or another connective-tissue abnormality; fractures of varying ages and stages of healing; codfish vertebrae; Wormian bones; protrusio acetabuli; low bone mass or osteoporosis; or a family history of osteogenesis imperfecta
Any one listed finding or family history is sufficient

Establishing or Confirming a Postnatal Skeletal Dysplasia or Rare Bone Disorder

Covered for establishing or confirming a postnatal skeletal dysplasia or rare bone disorder when the differential diagnosis includes multiple disorders and at least one qualifying prenatal or postnatal skeletal feature is present.

Postnatal skeletal dysplasia or rare bone disorder panel

Covered Codes and Clinical Thresholds

Osteogenesis Imperfecta (OI)mixedCovered

81406	Multigene molecular pathology procedure code listed for osteogenesis imperfecta testing
81408	Multigene molecular pathology procedure code listed for osteogenesis imperfecta testing
81479	Unlisted molecular pathology procedure
Q78.0	Osteogenesis imperfecta
Z82.79	Family history of congenital malformations, deformations and chromosomal abnormalities

Multigene Panel Analysis for Skeletal Dysplasia or Rare Bone DisordermixedCovered

81400	Multigene molecular pathology procedure code
81401	Multigene molecular pathology procedure code
81402	Multigene molecular pathology procedure code
81403	Multigene molecular pathology procedure code
81404	Multigene molecular pathology procedure code
81405	Multigene molecular pathology procedure code
81406	Multigene molecular pathology procedure code
81407	Multigene molecular pathology procedure code
81408	Multigene molecular pathology procedure code
81479	Unlisted molecular pathology procedure

1–10 of 13

1/2

Other Covered Skeletal Dysplasias and Rare Bone DisordersCPTCovered

81400	Multigene molecular pathology procedure code
81401	Multigene molecular pathology procedure code
81402	Multigene molecular pathology procedure code
81403	Multigene molecular pathology procedure code
81404	Multigene molecular pathology procedure code
81405	Multigene molecular pathology procedure code

Prenatal Long-Bone Shortening

AssessmentPrenatal ultrasound measurement of the long bones of the arms and legs

ThresholdMore than 3 standard deviations below the mean

Clinical significanceLong-bone parameters more than 3 standard deviations below the mean should strongly raise suspicion for skeletal dysplasia

Prenatal Head Circumference

AssessmentPrenatal ultrasound measurement of fetal head circumference

ThresholdGreater than the 75th percentile

Documentation and Decision Support

Documentation Required

Coverage Requires Policy Criteria

Genetic testing is medically necessary only when the applicable clinical criteria in this policy are met. Submit documentation supporting the suspected or confirmed disorder, relevant clinical findings, testing rationale, and the applicable billing code(s); a code alone does not establish coverage.

Apply the criteria for the specific testing category: OI testing, skeletal dysplasia or rare bone disorder multigene panels, or another listed disorder.
Document the clinical information supporting medical necessity before testing is performed.

Documentation Required

Document Phenotype and Testing Rationale

Before ordering testing, document the suspected or confirmed skeletal disorder and the findings that support the diagnosis or differential. Include relevant family history, prenatal ultrasound findings, postnatal features, and the management or diagnostic rationale for testing.

For OI, document qualifying features such as minimal-trauma fractures, short stature or bone deformity, blue/gray sclerae, dentinogenesis imperfecta, progressive postpubertal hearing loss, ligamentous laxity or other connective-tissue findings, family history, fractures of varying ages, codfish vertebrae, Wormian bones, protrusio acetabuli, or low bone mass/osteoporosis.

Eligibility Requirements

For osteogenesis imperfecta testing, a family history of osteogenesis imperfecta is one qualifying indication. Testing must otherwise be supported by at least one qualifying clinical finding, such as fractures with minimal or no trauma, short stature with bone deformity, blue or gray sclerae, dentinogenesis imperfecta, progressive postpubertal hearing loss, connective-tissue abnormalities, characteristic fractures or radiographic findings, Wormian bones, protrusio acetabuli, low bone mass, or osteoporosis.

Non-Covered Indications

The policy does not cover osteogenesis imperfecta testing for indications other than the listed qualifying clinical findings or family history. It also does not cover skeletal dysplasia or rare bone disorder multigene panel testing when the differential diagnosis does not include more than one disorder, when qualifying skeletal features are absent, or when the indication is not specifically addressed by this policy or another applicable medical policy.

Clinical Definitions

Short Stature

DefinitionHeight-for-age less than two standard deviations below average for sex

Growth-curve equivalentLength or height below the 3rd percentile on standard growth curves

Clinical contextThe definition is used in evaluating genetic causes of short stature

Wormian Bones

Anatomic descriptionSutural bones measuring at least 6 mm by 4 mm

NumberMore than ten bones

PatternA tendency to arrange in a mosaic pattern

Clinical Background

This policy addresses genetic testing for osteogenesis imperfecta, skeletal dysplasias, and other rare bone disorders. Testing may be used to establish or confirm a diagnosis and guide management when the clinical phenotype supports a suspected disorder or when the differential diagnosis includes multiple skeletal dysplasias or bone disorders. Relevant evidence may include prenatal ultrasound findings, postnatal short stature, fractures, bone deformity, abnormal mineralization, abnormal ribs, small chest circumference, and other characteristic skeletal features.

Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Orthopedics

Policy CodePolicy N/A

Change TypeModified

Effective DateMay 1, 2026

Last ReviewNov 1, 2025

Next Review DateN/A

Key ActionSubmit the suspected or confirmed skeletal disorder, relevant clinical findings, family history when applicable, prenatal ultrasound findings when applicable, and testing rationale.

SourceLink

On This Page

Multiple-disorder differential: The differential diagnosis includes more than one type of skeletal dysplasia or bone disordermore than one disorder type
Qualifying skeletal feature
- Prenatal or postnatal findings: Prenatal ultrasound showed arm or leg bones more than 3 standard deviations below the mean; prenatal ultrasound showed head circumference greater than the 75th percentile; prenatal ultrasound showed bowed, fractured, thickened, thin, or undermineralized bones; prenatal ultrasound showed abnormal ribs or a small chest circumference; or postnatal height or length is less than the 3rd percentile

Establishing or Confirming a Listed Skeletal Dysplasia or Rare Bone Disorder

Covered for establishing or confirming a policy-listed skeletal dysplasia or rare bone disorder to guide management when the member's clinical features are consistent with the suspected disorder. The list is not comprehensive.

Listed disorder and management purpose

Named disorder group: The suspected condition is achondroplasia, hypochondroplasia, thanatophoric dysplasia; a type II or type XI collagen disorder; a sulfation disorder; a filamin or similar disorder; a short-rib dysplasia with or without polydactyly; a metaphyseal dysplasia; a spondylo-epi-(meta)-physeal dysplasia; an acromesomelic disorder; a mesomelic or rhizo-mesomelic dysplasia; a bent-bone dysplasia; a slender-bone dysplasia; a neonatal osteosclerotic dysplasia; osteopetrosis; hypophosphatasia; multiple epiphyseal dysplasia; pseudoachondroplasia; Stickler syndrome; or hereditary multiple osteochondromas
Consistent clinical phenotype: The member demonstrates clinical features consistent with the suspected disorder

Clinical significanceHead circumference greater than the 75th percentile is especially concerning when fetal long-bone parameters are more than 3 standard deviations below the mean

Postnatal Short Stature

AssessmentPostnatal height or length

ThresholdLess than the 3rd percentile

Related definitionHeight-for-age less than two standard deviations below average for sex corresponds to length or height below the 3rd percentile on standard growth curves

Chest-to-Abdominal Circumference Ratio

MeasurementChest circumference divided by abdominal circumference

ThresholdLess than 0.6

Clinical implicationStrongly suggests a perinatal lethal disorder, although exceptions exist

Femur-Length-to-Abdominal-Circumference Ratio

MeasurementFemur length divided by abdominal circumference

Threshold0.16

Clinical implicationStrongly suggests a perinatal lethal disorder, although exceptions exist

For skeletal dysplasia or rare bone disorder panels, document that the differential includes more than one disorder and identify qualifying prenatal or postnatal findings, including markedly shortened long bones, increased prenatal head circumference, abnormal bones, abnormal ribs or small chest circumference, or postnatal height/length below the third percentile.

For another listed disorder, document clinical features consistent with that disorder and how testing will guide management.

Denial Risk

OI Testing Without Qualifying Findings

OI testing with COL1A1 and COL1A2 variant analysis, or a multigene panel that includes both genes, is not supported for indications lacking the policy’s qualifying clinical findings or family history. Such testing is at denial risk when the member has none of the listed OI features.

Confirm and document at least one qualifying OI finding or a family history of OI before ordering testing.
Do not rely on nonspecific concern alone; current evidence does not support OI testing for all other indications.

Denial Risk

Panel Testing Requires a Qualifying Phenotype

A multigene panel for a skeletal dysplasia or rare bone disorder is at denial risk when the differential diagnosis does not include more than one type of disorder or when the member lacks a qualifying skeletal-dysplasia phenotype.

Document a differential diagnosis that includes more than one skeletal dysplasia or bone disorder.
Document at least one qualifying prenatal ultrasound finding or postnatal short stature below the third percentile.
Current evidence does not support panel testing for all other indications.

Note

Condition Outside This Policy’s List

For skeletal dysplasias or rare bone disorders not specifically discussed in this policy or another applicable medical policy, route the request for evaluation under the criteria in the General Approach to Laboratory Testing policy.

Do not assume coverage solely because a condition has a known genetic association.
Document the suspected condition and relevant clinical features for review under the applicable policy.

Documentation Required

PROVIDER ACTIONS

Provide pre-test and post-test genetic counseling and support informed decision-making. Discuss the purpose, limitations, possible results, implications for the member and family, and the possibility of secondary or incidental findings, including how those findings will be handled and communicated.

Obtain informed consent before testing, consistent with applicable requirements.
Offer post-test counseling to explain results and recommended follow-up.
Document the member’s decisions regarding disclosure and management of secondary or incidental findings.

Diagnostic significanceSuggestive of, but not diagnostic of, osteogenesis imperfecta

Protrusio Acetabuli

DefinitionA hip socket that is too deep

Anatomic effectThe acetabulum bulges into the cavity of the pelvis

Clinical descriptionThis causes intrapelvic protrusion of the acetabulum

Non-accidental Trauma (NAT)

DefinitionAn injury purposely inflicted upon a child

ExampleChild abuse

Common presentationNAT often occurs as injury to the skin and soft tissue

Fracture relationshipApproximately one third of non-accidental trauma cases involve fractures