| Coverage Policy Manual | |
| Policy #: | 2020010 |
| Category: | Laboratory |
| Initiated: | May 2020 |
| Last Review: | May 2024 |
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| Genetic Test: Beckwith-Wiedemann Syndrome | |
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| Description: |
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).
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Policy/ Coverage: |
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 when all of the following criteria are met:
Does Not Meet Primary Coverage Criteria Or Is Investigational 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.
For members with contracts without primary coverage criteria, genetic testing to diagnose Beckwith-Wiedemann syndrome (BWS) in all other situations is considered investigational. 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.
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| 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.
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| CPT/HCPCS: | |
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| 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 |
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Group specific policy will supersede this policy when applicable. This policy does not apply to the Wal-Mart Associates Group Health Plan participants or to the Tyson Group Health Plan participants.
CPT Codes Copyright © 2025 American Medical Association. |
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