CurrentBlue Cross Blue Shield - NebraskaPolicy M.84

MA Specialty Testing: Orthopedics (Preauthorization Required)

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Policy governs preauthorization and medical necessity criteria for genetic testing (single-gene and multigene panels) to establish or confirm diagnoses of osteogenesis imperfecta and other skeletal dysplasias/rare bone disorders for BCBSNE members.

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CurrentBlue Cross Blue Shield - NebraskaPolicy M.84

MA Specialty Testing: Orthopedics (Preauthorization Required)

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Sign up for Blue Cross Blue Shield - Nebraska Policy M.84 alerts

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Policy Summary

PayerBlue Cross Blue Shield - Nebraska

PolicyMA Specialty Testing: Orthopedics (Preauthorization Required)

Policy CodePolicy M.84

Change TypeNo material changes

Effective DateMay 1, 2026

Next Review DateJan 1, 2027

Key ActionObtain preauthorization for specialty genetic testing and listed molecular procedures before ordering.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

42%Diagnostic yield (referenced study)

71Genes with molecular diagnoses (study)

771 / 552Nosology entries / genes

>3 SDPrenatal ultrasound trigger

<3rd pctPostnatal short stature threshold

Coverage Criteria — Genetic Testing for Skeletal Dysplasias

Osteogenesis Imperfecta — COL1A1/COL1A2 testing

Covered when ALL of the following are met for establishing or confirming OI:

OI testing criteria

Clinical features: 1. Fractures with minimal or no trauma in the absence of other factors (e.g., NAT) OR 2. Short stature, often with bone deformity OR 3. Blue/gray scleral hue OR 4. Dentinogenesis imperfecta OR 5. Progressive, postpubertal hearing loss OR 6. Ligamentous laxity or other signs of connective tissue abnormality OR 7. Family history of OI OR 8. Fractures of varying ages and stages of healing OR 9. 'Codfish' vertebrae OR 10. Wormian bones OR 11. Protrusio acetabuli OR 12. Low bone mass or osteoporosis
At least one feature required

Other Covered Skeletal Dysplasias and Rare Bone Disorders

Genetic testing to establish or confirm diagnosis may be considered reasonable and necessary when the member demonstrates clinical features consistent with the disorder.

Covered disorders list: Includes Achondroplasia group (achondroplasia, hypochondroplasia, thanatophoric dysplasia), Type II collagenopathies, Type XI collagen disorders, sulfation disorders, filamin disorders, Larsen syndrome, short-rib dysplasias, metaphyseal dysplasias, spondylo-epi-(meta)-physeal dysplasias, acromesomelic disorders, mesomelic/rhizo-mesomelic dysplasias, bent bone dysplasias, slender bone dysplasia, microcephalic osteodysplastic primordial dwarfism, neonatal osteosclerotic dysplasias, increased bone density group (osteopetrosis), abnormal mineralization group (hypophosphatasia), multiple epiphyseal dysplasia and pseudoachondroplasia, hereditary multiple osteochondromas, and others listed in the policy

List is illustrative and not comprehensive; testing for other disorders will be evaluated per General Approach to Genetic and Molecular Testing policy

Clinical indications supported by guideline and evidence citations

Clinical indications and supporting evidence cited in this section:

Clinical scenarios supported by cited guidance/studies: Multigene panel testing is supported when there is clinical suspicion of skeletal dysplasia or genetic cause of short stature based on prenatal ultrasound findings (eg, fetal long bone measurements ≤5th centile or >3 SD below mean, abnormal skeletal shape/mineralization, or lethality indicators) or in children with persistent short stature or suspected skeletal dysplasia per ACMG guidance; evidence includes a diagnostic yield of 42% in a 543-patient NGS panel study and the updated Nosology listing many relevant genes.

This chunk compiles recommended clinical triggers rather than an enumerated policy checklist.

When the policy's specified clinical criteria are not met, genetic testing described here is not considered reasonable and necessary. Specifically, analysis of COL1A1 and COL1A2 (or multigene panels that include these genes) for osteogenesis imperfecta and multigene panel analysis for skeletal dysplasia or rare bone disorders will be denied when performed for indications other than those explicitly listed in the policy (for example, absent the clinical features or differential diagnosis requirements shown below).

Providers seeking coverage should ensure that the member meets the policy's required findings (such as the listed OI clinical features or the prenatal/postnatal thresholds for multigene panels) before submitting a prior authorization request to avoid probable denial.

Multigene panel analysis to confirm or establish a postnatal diagnosis of a skeletal dysplasia or rare bone disorder is covered only when both conditions are met: A) the differential diagnosis includes more than one type of skeletal dysplasia or bone disorder; and B) the member displays one or more qualifying clinical features (for example, prenatal ultrasound findings such as long bone shortening >3 standard deviations below the mean or postnatal short stature <3rd percentile).

If these two requirements are not satisfied, multigene panel testing for skeletal dysplasia or rare bone disorders is considered not reasonable and necessary and is not covered.

No additional explicit exclusions are listed in the provided policy excerpt. Coding and molecular pathology procedure examples (including multigene panel CPT level examples) are provided elsewhere in the policy, but the excerpt does not add further categorical exclusions beyond the general statement that tests are not reasonable and necessary when the listed criteria are not met.

Use of COL1A1/COL1A2 analysis or multigene panels outside of the specified indications (for example, when the member lacks any of the listed osteogenesis imperfecta features or when the differential diagnosis and clinical-feature requirements for multigene panels are not met) is explicitly stated as not reasonable and necessary and therefore will not be covered.

Ensure documented clinical findings that meet the policy thresholds—such as one or more OI features listed for COL1A1/COL1A2 testing or prenatal/postnatal criteria (eg, long bone shortening >3 SD below the mean or height/length <3rd percentile)—are included with prior authorization requests to demonstrate medical necessity.

Multigene panel testing is intended to be used when the clinical picture suggests multiple possible genetic etiologies. The policy requires both a differential that includes multiple skeletal dysplasias or bone disorders and at least one qualifying clinical feature (prenatal or postnatal) before coverage is allowed.

Absent those conditions, multigene panel requests for skeletal dysplasia/rare bone disorder are considered not reasonable and necessary and are not supported by this policy.

The provided excerpt does not contain any standalone 'not medically necessary' statements beyond the policy's general designation that testing is not reasonable and necessary for indications outside those explicitly listed. For operational purposes, the policy treats tests performed without the required documented clinical criteria as not reasonable and necessary.

Coding — Procedure and Diagnosis Codes

Common billing codes referencedmixed

81404	listed in reference table
81405	listed in reference table
81406	listed in reference table
81407	listed in reference table
81408	listed in reference table
81228	listed in reference table
81479	listed in reference table
81175	listed in reference table
81216	listed in reference table
81236	listed in reference table

1–10 of 18

1/2

Example ICD-10 codes referencedICD-10

Q78.0	Osteogenesis imperfecta (example ICD code listed)
Z82.79	Family history of other specified conditions (example ICD code listed)
M85	Other specified disorders of bone density and structure (example ICD code listed)
Q77	Other congenital malformations of musculoskeletal system (example ICD code listed)
Q78	Other anomalies of limb(s) (example ICD code listed)

Listed CPT molecular and molecular pathology procedure codesCPT

81175	ASXL1 GENE ANALYSIS FULL GENE SEQUENCE
81228	CYTOGENOM CONST MICROARRAY COPY NUMBER VARIANTS
81236	EZH2 GENE ANALYSIS FULL GENE SEQUENCE
81265	COMPARATIVE ANAL STR MARKERS PATIENT&COMP SPEC
81272	KIT GENE ANALYSIS TARGETED SEQUENCE ANALYSIS
81307	PALB2 GENE ANALYSIS FULL GENE SEQUENCE
81400	MOLECULAR PATHOLOGY PROCEDURE LEVEL 1
81401	MOLECULAR PATHOLOGY PROCEDURE LEVEL 2
81402	MOLECULAR PATHOLOGY PROCEDURE LEVEL 3
81403	MOLECULAR PATHOLOGY PROCEDURE LEVEL 4

1–10 of 13

1/2

Molecular pathology procedure Level 6 examplesCPT

81406

Molecular pathology procedure, Level 6

Molecular pathology procedure Level 7 examplesCPT

81407

Molecular pathology procedure, Level 7

Molecular pathology procedure Level 8 examplesCPT

81408

Molecular pathology procedure, Level 8

Molecular pathology procedure Level 9 examplesCPT

81409

Molecular pathology procedure, Level 9

Unlisted molecular pathology procedureCPT

81479

Unlisted molecular pathology procedure

inv-20: Fetal long bone shortening — Ultrasound threshold for considering testing: >3 standard deviations below the mean.

Ultrasound threshold>3 standard deviations below the mean for fetal long bone measurements

Alternative fetal triggerFetal long bone measurements at or below the 5th centile warrant evaluation at an expert center

Associated ultrasound findingsHead circumference >75th percentile increases suspicion when long bones are markedly short

inv-21: Short stature (postnatal) — Height/length less than 3rd percentile as a criterion.

Postnatal short stature threshold

Provider Actions — Authorization, Documentation, and Counseling

Prior Authorization

Obtain prior authorization for specialty genetic testing

Preauthorization is required for specialty genetic testing for orthopedic/skeletal dysplasia indications listed in this policy; obtain prior authorization before ordering tests such as COL1A1/COL1A2 analysis or multigene panels for osteogenesis imperfecta and related disorders.

Policy states preauthorization is required for specialty genetic testing for orthopedic/skeletal dysplasia indications.

Prior Authorization

Prior authorization required for listed molecular procedure codes

Preauthorization is required for the molecular and gene-specific procedure codes listed in the policy code tables; use the policy's Quick Code Search to verify procedure/diagnosis pairs prior to submission.

Quick Code Search: enter procedure code then diagnosis code and click 'Add Code Pair' to check automated approval/denial status.

Background and Rationale

Osteogenesis imperfecta (OI) is a heritable disorder most commonly caused by pathogenic variants in COL1A1 or COL1A2 and is characterized by features including low‑trauma fractures, short stature, blue/gray sclerae, dentinogenesis imperfecta, progressive postpubertal hearing loss, ligamentous laxity and other connective tissue signs, and radiographic findings such as 'codfish' vertebrae or wormian bones. The policy notes that genetic testing of these genes or multigene panels that include them may be reasonable and necessary to establish or confirm an OI diagnosis when these clinical features are present, and that prenatal ultrasound findings (for skeletal dysplasia considerations) and postnatal growth parameters inform testing decisions.

Definitions and Key Terms

inv-36: Non-accidental Trauma (NAT) — Definition and relevance to fractures in children.

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

Relevance to fracturesApproximately one-third of NATs are fractures — consideration of NAT is required when evaluating fractures in children

Clinical implicationFractures with minimal or no trauma should be interpreted in context and NAT should be excluded as an alternative explanation before attributing to a genetic bone disorder

inv-37: Prenatal lethality indicators — Chest-to-abdominal circumference ratio and other fetal metrics suggesting perinatal lethality.

Chest/abdominal ratio thresholdChest‑to‑abdominal circumference ratio <0.6 suggests perinatal lethality

Femur/abdominal ratio

Policy Summary

PayerBlue Cross Blue Shield - Nebraska

PolicyMA Specialty Testing: Orthopedics (Preauthorization Required)

Policy CodePolicy M.84

Change TypeNo material changes

Effective DateMay 1, 2026

Next Review DateJan 1, 2027

Key ActionObtain preauthorization for specialty genetic testing and listed molecular procedures before ordering.

SourceLink

On This Page

Height or length less than the 3rd percentile

Clinical contextUsed as a qualifying feature for multigene panel testing when differential includes multiple skeletal dysplasias

Guideline basisACMG definition: height‑for‑age <2 SD (commonly <3rd centile) prompts genetic evaluation

inv-22: Short stature / fetal measurement thresholds — Combined measurement thresholds and examples used for clinical decision-making.

Combined fetal thresholdsFetal long bone ≤5th centile or >3 SD below mean; head circumference >75th percentile; chest-to-abdominal circumference ratio <0.6; femur length/abdominal circumference ratio ≈0.16

Postnatal thresholdShort stature defined as height/length < -2 SD (typically <3rd centile)

Clinical useThese measurements (prenatal or postnatal) are used as triggers to pursue multigene panel testing when the differential includes multiple skeletal dysplasias

Prior Authorization

Prior authorization required for multigene molecular pathology panels

Multigene molecular pathology procedures (molecular pathology procedure levels 6–9 and unlisted 81479) are included in the policy coding list and require prior authorization under this policy.

Policy includes examples and references for molecular pathology procedure Levels 6–9 and lists unlisted molecular pathology code 81479.

Note

Confirm clinical indication matches policy criteria before ordering

Ensure the clinical differential includes the appropriate indication (e.g., suspicion of OI or multiple possible skeletal dysplasias) before ordering testing; orders without clinical indication consistent with policy criteria risk noncoverage.

OI testing: member must have one or more listed clinical features (e.g., fractures with minimal trauma, short stature, blue/gray sclera, dentinogenesis imperfecta).
Multigene panels: differential must include >1 type of skeletal dysplasia and member must display qualifying prenatal or postnatal features.

Billing Rule

Match ordered test type to policy-listed CPT examples

Use the policy’s listed CPT codes when requesting authorization and ensure the ordered test corresponds to the policy’s examples (single-gene vs multigene panel) to avoid mismatches during review.

Select the CPT code that reflects the test complexity (individual gene full-sequence vs molecular pathology level).

Documentation Required

Document panel gene content and CPT complexity when requesting authorization

If ordering a multigene panel, document that the panel includes the relevant genes (for example COL1A1/COL1A2 when OI is suspected) and that panel complexity corresponds to the CPT level submitted for authorization.

Document which genes are included in the panel and rationale for panel versus single-gene testing.
Ensure CPT level submitted (e.g., 81406–81409 or 81479) aligns with panel size/complexity.

Documentation Required

Provide pre- and post-test genetic counseling

Pre-test and post-test genetic counseling and a plan for returning results before testing is strongly advised; include counseling documentation when available.

Policy explicitly states pre-test and post-test genetic counseling that addresses incidental findings and a return-of-results plan is strongly advised.

Documentation Required

Document fetal ultrasound and postnatal growth findings to support medical necessity

Include relevant clinical findings in documentation to support the indication — for prenatal cases provide fetal ultrasound measurements (eg, long bone measurements and head circumference) and for postnatal cases provide growth parameters such as height/length percentiles.

Prenatal thresholds: long bone measurements ≤5th centile or >3 SD below the mean; head circumference >75th percentile; chest-to-abdominal circumference ratio and femur length/abdominal circumference ratios for lethality assessment.
Postnatal threshold: short stature defined as height/length less than 3rd percentile (or < −2 SD).

Note

References and policy disclaimer noted

References and a medical policy disclaimer are provided in the policy; no additional prior authorization documentation specifics are included in the excerpted references section.

References include OMIM, NCBI resources, MedlinePlus Genetics, and a DOI for a cited study.

Denial Risk

Denial risk when clinical criteria are not met

Tests are considered not reasonable and necessary — and therefore may be denied — when used for indications other than those specifically listed for osteogenesis imperfecta or multigene panel testing for skeletal dysplasia/rare bone disorders.

Policy states COL1A1/COL1A2 testing and multigene panel analysis are not reasonable and necessary for all other indications.

Billing Rule

Submit matching procedure and diagnosis code pair

Submit both a procedure code and a diagnosis code when using the Quick Code Search; failing to submit a matching procedure/diagnosis code pair or submitting a non-matching pair may affect automated approval or denial.

Quick Code Search requires entering the procedure code then the diagnosis code and clicking 'Add Code Pair' to check approval status.

Note

No additional provider actions specified in excerpt

When the excerpt provides no additional provider-specific action, no further documentation or step-therapy requirements are stated; follow the policy and contact BCBSNE for questions about authorization submission details.

The excerpt contains no additional stated provider actions regarding step therapy or other requirements.

Femur length to abdominal circumference ratio of ~0.16 strongly suggests a perinatal lethal disorder

Use in assessmentThese metrics support lethality assessment and inform counseling and diagnostic evaluation in suspected severe fetal skeletal dysplasia

inv-38: Short stature — Definition prompting genetic evaluation (height-for-age < -2 SD / <3rd centile).

Short stature definition prompting evaluationHeight‑for‑age less than two standard deviations below average (commonly <3rd centile)

ContextThis definition is the usual threshold prompting genetic evaluation for causes of short stature per ACMG guidance

ApplicationPersistent short stature without overt dysplasia signs may still warrant molecular testing (ACMG 2021 guidance)

inv-39: Molecular pathology procedure levels 6-9 — CPT categorizations describing complexity/size of gene analyses.

Level 6Molecular pathology procedure, Level 6 — example: CPT 81406 (approx. 6–10 exons or targeted arrays)

Level 7Molecular pathology procedure, Level 7 — example: CPT 81407 (approx. 11–25 exons or 26–50 exon CNV)

Level 8Molecular pathology procedure, Level 8 — example: CPT 81408 (multi‑gene platforms / 26–50 exons)

Level 9Molecular pathology procedure, Level 9 — example: CPT 81409 (analysis of >50 exons in a single gene; e.g., COL1A1, COL1A2 full gene sequences)