 |
|
|||||||||||
| Genetic Test: Beckwith-Wiedemann Syndrome | |
|
|
|
| Description: |
This policy applies to the following service/procedure: Genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS).
Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits.
The hallmark features of BWS include omphalocele (exomphalos), macroglossia, and macrosomia (gigantism); however, there is significant clinical heterogeneity. Incidence figures for the specific individual clinical findings in BWS vary widely in published reports. Therefore, BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of these clinical features. Early death by result from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Coding
81401 x 2 units - Molecular pathology procedure, Level 2 (eg, 2 10 SNPs, 1 methylated variant, or 1 somatic variant [typically using non-sequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat)*
*Generally recommended as first test. Other genetic testing may be covered as outlined in guidance sources (e.g. Gene Reviews or International Consensus Statement as cited below).
|
|
|
|
|
Policy/ Coverage: |
Effective July 01, 2026
Genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) meets member benefit certificate Primary Coverage Criteria that there be scientific evidence of effectiveness in improving health outcomes or for members with contracts without Primary Coverage Criteria, is considered Medically Necessary and is covered when the following criteria are met:
*Adapted from Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement. NATURE REVIEWS | ENDOCRINOLOGY VOLUME 14 | APRIL 2018 | 231
Other acceptable guideline sources include Gene Reviews or other professional consensus statements.
Click the following link to view the InterQual® criteria:
https://prod.ds.interqual.com/service/connect/transparency?tid=27b0a724-ca06-4b22-846b-598b8dae52fc
Does Not Meet Primary Coverage Criteria Or Is Not Covered For Contracts Without Primary Coverage Criteria
Genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS)
does not meet member benefit certificate Primary Coverage Criteria that there be scientific evidence of effectiveness in improving health outcomes and is not covered for any indication or circumstance not described above.
For members with contracts without Primary Coverage Criteria, genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) is considered not Medically Necessary or is investigational and is not covered for any indication or circumstance not described above. Not Medically Necessary or Investigational services are specific contract exclusions in most member benefit certificates of coverage.
Click the following link to view the InterQual® criteria:
https://prod.ds.interqual.com/service/connect/transparency?tid=27b0a724-ca06-4b22-846b-598b8dae52fc
Effective prior to June 30, 2026
Meets Primary Coverage Criteria Or Is Covered For Contracts Without Primary Coverage Criteria
Genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) meets member benefit certificate Primary Coverage Criteria that there be scientific evidence of effectiveness in improving health outcomes or for members with contracts without Primary Coverage Criteria is considered Medically Necessary and is covered when all of the following criteria are met:
1. Clinical findings suggestive of Beckwith-Wiedemann spectrum using a guideline such as the one listed below*:
2. Individual has been evaluated by a certified genetic counselor or physician accredited in genetics.
3. Documentation in the medical record of how genetic testing will change health outcomes.
Does Not Meet Primary Coverage Criteria Or Is Not Covered For Contracts Without Primary Coverage Criteria
Genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) in all other situations does not meet member benefit certificate Primary Coverage Criteria that there be scientific evidence of effectiveness in improving health outcomes.
For members with contracts without Primary Coverage Criteria, genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) in all other situations is considered Not Medically Necessary or is investigational and is not covered. Not Medically Necessary or investigational services are specific contract exclusions in most member benefit certificates of coverage.
*Adapted from Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement. NATURE REVIEWS | ENDOCRINOLOGY VOLUME 14 | APRIL 2018 | 231
Other acceptable guideline sources include Gene Reviews or other professional consensus statements.
|
|
|
|
| Rationale: |
2021 Update
Annual policy review completed with a literature search using the MEDLINE database through March 2021. No new literature was identified that would prompt a change in the coverage statement.
2022 Update
Annual policy review completed with a literature search using the MEDLINE database through April 2022. No new literature was identified that would prompt a change in the coverage statement.
2023 Update
Annual policy review completed with a literature search using the MEDLINE database through April 2023. No new literature was identified that would prompt a change in the coverage statement.
2024 Update
Annual policy review completed with a literature search using the MEDLINE database through April 2024. No new literature was identified that would prompt a change in the coverage statement.
2025 Update
Annual policy review completed with a literature search using the MEDLINE database through April 2025. No new literature was identified that would prompt a change in the coverage statement.
2026 Update
Annual policy review completed with a literature search using the MEDLINE database through April 2026. No new literature was identified that would prompt a change in the coverage statement.
|
|
|
|
| CPT/HCPCS: | |
|
|
|
| References: |
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.(2018) Brioude F, Kalish JM, Mussa A et al. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29.
Shuman C, Smith AC, Weksberg R.(2008) Beckwith-Wiedemann Syndrome. GeneReviews [Internet] 2008 |
|
|
|
| Group specific policy will supersede this policy when applicable. This policy does not apply to the Wal-Mart Associates Group Health Plan participants. | |
| CPT Codes Copyright © 2026 American Medical Association. | |