CurrentWellCarePolicy N/A

V1.2024 Concert Genetics Genetic Testing Skeletal Dysplasia and Rare Bone Disorders

Defines medical necessity criteria for genetic testing (single-gene and multigene panels) to establish or confirm diagnoses of osteogenesis imperfecta, skeletal dysplasias, and other rare bone disorders, and lists covered conditions and CPT codes referenced.

Policy Summary

PayerWellCare

PolicyV1.2024 Concert Genetics Genetic Testing Skeletal Dysplasia and Rare Bone Disorders

Policy CodePolicy N/A

Change TypeSemi-annual review; minor wording and coding updates

Effective Date

Next Review Date

Key ActionProviders must document the specific clinical features and differential that includes multiple skeletal dysplasias when submitting requests; testing is medically necessary only when criteria are met.

SourceLink

POLICY UPDATE CHANGES

Updated title to reflect V1.2024 version and updated overview, coding, reference-table, background and references.

Semi-annual review performed with minor edits

1Primary specific condition covered (Osteogenesis Imperfecta)

>=20Listed other covered skeletal dysplasia groups/conditions

10CPT codes referenced

This policy defines medical necessity criteria for genetic testing (single-gene and multigene panels) to establish or confirm diagnoses of osteogenesis imperfecta, skeletal dysplasias, and other rare bone disorders. Genetic testing (including COL1A1/COL1A2 analysis and multigene panels) can establish a precise diagnosis, guide management, and inform familial recurrence risk; multigene panels are often preferred to identify the genetic cause while limiting variants of uncertain significance and testing of unrelated genes. Key thresholds include: postnatal short stature <3rd percentile; prenatal long bone shortening >3 standard deviations below the mean; and prenatal head circumference >75th percentile.

Policy Quick Facts

Primary condition coveredOsteogenesis Imperfecta

Listed other covered groups/conditions>=20 (multiple skeletal dysplasia groups and disorders listed)

CPT codes referenced81400-81408, 81479 (includes single-gene 81408 and multigene panel codes 81400-81407)

Last review2023-10-01

StatusCURRENT

Medical-Necessity Criteria

Osteogenesis Imperfecta - Medically Necessary

COL1A1 and COL1A2 variant analysis (81408, 81479) or multigene panel analysis (81406, 81408, 81479) that includes COL1A1 and COL1A2 is considered medically necessary when:

ALL of the following

Member has any of the following
- Fractures with minimal or no trauma in the absence of other factors, such as non-accidental trauma (NAT) or other known disorders of bone
- Short stature, often with bone deformity
- Blue/gray scleral hue
- Dentinogenesis imperfecta (DI)
- Progressive, postpubertal hearing loss
- Ligamentous laxity or other signs of connective tissue abnormality
- Family history of OI, typically with autosomal dominant inheritance
- Fractures of varying ages and stages of healing (often of the long bones)
- 'Codfish' vertebrae
- Wormian bones
- Protrusio acetabuli
- Low bone mass or osteoporosis

Osteogenesis Imperfecta - Investigational / Not Covered

COL1A1 and COL1A2 testing or multigene panel analysis for OI is considered investigational when not meeting the above criteria.

ALL of the following

Any indication other than those listed in medically necessary criteria for OI

Multigene Panel Analysis for Skeletal Dysplasia or Rare Bone Disorder - Medically Necessary (post-natal)

Multigene panel analysis (81400-81408, 81479) to confirm or establish a post-natal diagnosis may be considered medically necessary when:

ALL of the following

Member displays one or more of the following clinical features
- Prenatal ultrasound that showed shortening of the bones of the arms and legs more than 3 standard deviations below the meanmore than 3 standard deviations below the mean
- Prenatal ultrasound that showed head circumference greater than 75th percentilegreater than 75th percentile
- Prenatal ultrasound that showed bone irregularities (e.g., bowed, fractured, thickened, thin, undermineralized, etc.)

Multigene Panel Analysis - Investigational / Not Covered

Multigene panel analysis to confirm or establish a diagnosis is considered investigational when:

ALL of the following

Indications other than those meeting the medically necessary criteria above

Coding

Covered CPT codes referenced for multigene panels and single-gene testsCPTCovered

81400	Molecular pathology multigene panel, level 0 (referenced for multigene panels)
81401	Molecular pathology multigene panel, level 1
81402	Molecular pathology multigene panel, level 2
81403	Molecular pathology multigene panel, level 3
81404	Molecular pathology multigene panel, level 4
81405	Molecular pathology multigene panel, level 5
81406	Molecular pathology multigene panel, level 6 (commonly referenced for OI panels)
81407	Molecular pathology multigene panel, level 7
81408	Targeted sequence analysis (single gene) - referenced for COL1A1 and COL1A2
81479	Unlisted molecular pathology procedure - referenced as used for some tests

ICD-10 codes referenced as common diagnosesICD-10

Q78.0	Osteogenesis imperfecta
Z82.79	Family history of other diseases of musculoskeletal system and connective tissue
M85	Other specified disorders of bone density and structure (group reference)
Q77	Chondrodysplasias (group reference)
Q78	Other congenital malformations of the skeletal system (group reference)

Provider Actions

Documentation Required

Document clinical features supporting testing

Providers must document the specific clinical features (e.g., fractures without trauma, short stature <3rd percentile, ultrasound findings) and differential that includes multiple skeletal dysplasias when submitting requests for multigene panels; testing is medically necessary only when criteria are met.

Fractures with minimal or no trauma (in absence of NAT or other bone disorders)
Short stature with height/length less than 3rd percentile
Prenatal or postnatal ultrasound findings (shortened long bones, bone irregularities, abnormal ribs or small chest)
Differential diagnosis includes more than one type of skeletal dysplasia

Prior Authorization

Prior authorization expected per Health Plan policy

This clinical policy is used to determine medical necessity and will be applied by the Health Plan; providers should obtain any required prior authorization per plan procedures before testing.

This policy determines medical necessity for genetic testing of skeletal dysplasias and rare bone disorders
Obtain prior authorization per the member’s Health Plan procedures before ordering testing

Testing is considered medically necessary only when the specific clinical criteria in this policy are met (for example, criteria for osteogenesis imperfecta or for multigene panel analysis for skeletal dysplasia). Providers must document the specific clinical features and differential diagnosis that support testing and obtain any required prior authorization; claims may be denied if documentation does not support the policy criteria.

Background

Skeletal dysplasias are rare genetic disorders affecting bone and joint development; genetic testing (single-gene or multigene panels) has enabled identification of many causal genes and can provide prognostic information and guide management. A multigene panel that includes relevant genes (for example, COL1A1 and COL1A2 when OI is suspected) is often preferred to identify the genetic cause while limiting variants of uncertain significance. The goals of testing are to establish a specific diagnosis, inform clinical management, and clarify recurrence risk for the family.

Definitions

Close relativesFirst-, second-, and third-degree blood relatives (first: parents, siblings, children; second: grandparents, aunts/uncles, nieces/nephews, grandchildren, half-siblings; third: great grandparents/aunts/uncles, great grandchildren, first cousins)

Non-accidental Trauma (NAT)Injury purposely inflicted upon a child (e.g., child abuse); approximately one third of NATs are fractures.

Evidence

Nosology coverageMortier et al. 2019: Nosology lists 461 diseases; pathogenic variants in 437 genes (≈92%)

Guideline for short statureACMG practice guideline: short stature defined as height less than the 3rd centile (height-for-age < -2 SD)

Revision History

10/23revisedLatest

Semi-annual review performed with minor edits; updated title to reflect V1.2024 version and updated overview, coding, reference-table, background and references; replaced 'coverage criteria' with 'criteria' throughout; added CPT codes 81401-81407 to Policy Reference Table; added 'and Molecular' to Other Related Policies; added 'post-natal' in Multigene Panel section; removed a parenthetical under Other Covered Skeletal Dysplasia I.O.1.

03/23revised

Policy developed. Updated title to reflect V1.2024 version and updated overview, coding, reference-table, background and references; replaced 'coverage criteria' with 'criteria' throughout; added CPT codes 81401-81407 to Policy Reference Table; added 'and Molecular' to Other Related Policies; added 'post-natal' in Multigene Panel section; removed a parenthetical under Other Covered Skeletal Dysplasia I.O.1.

Policy Summary

PayerWellCare

PolicyV1.2024 Concert Genetics Genetic Testing Skeletal Dysplasia and Rare Bone Disorders

Policy CodePolicy N/A

Change TypeSemi-annual review; minor wording and coding updates

Effective Date

Next Review Date

SourceLink

On This Page

OpenPayer

V1.2024 Concert Genetics Genetic Testing Skeletal Dysplasia and Rare Bone Disorders

Coverage Summary

Medical-Necessity Criteria

Coding

Provider Actions

Background

Revision History