Coverage Policy Manual - Arkansas Blue Cross and Blue Shield

Genetic Test: X-Linked Opitz G/BBB Syndrome, MID1 Mutation Testing

Description:

X-linked Opitz G/BBB Syndrome is a multiple congenital anomaly syndrome believed to affect 1 in 50,000 to 100,000 males (National Library of Medicine). The syndrome is characterized by facial anomalies, defects of the larynx, trachea, and/or esophagus, and genitourinary abnormalities. Diagnosis is established primarily by clinical findings.

There is no specific CPT or HCPCS code for this testing. An unlisted code such as 81479 (unlisted molecular pathology procedure) would likely be used.

Policy/
Coverage:

Does Not Meet Primary Coverage Criteria Or Is Investigational For Contracts Without Primary Coverage Criteria

Genetic testing for MID1 mutation to confirm or establish the diagnosis of X-linked Opitz G/BBB syndrome 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 for MID1 mutation to confirm or establish the diagnosis of X-linked Opitz G/BBB syndrome is considered investigational. Investigational services are specific contract exclusions in most member benefit certificates of coverage.

Rationale:

There is insufficient scientific evidence that this test improves health outcomes and is either not recommended by, or is not addressed in the following references.

EGAPP:

Gene testing for the determination of the presence of MID1 mutation to confirm or establish the diagnosis of X-Linked Opitz G/BBB Syndrome has not been evaluated by EGAPP.

Gene Reviews:

Gene testing for the determination of the presence of MID1 mutation to confirm or establish the diagnosis of X-Linked Opitz G/BBB Syndrome has been evaluated by Gene Reviews. The review states, “X-linked Opitz G/BBB syndrome (XLOS) is diagnosed on the basis of clinical findings.” The possible uses of MID1 mutation testing is discussed including confirmation and establishment of diagnosis, carrier testing for at-risk females, prenatal diagnosis and preimplantation genetic diagnosis. GeneReviews notes that although the clinical uses of the testing are included in the review, the inclusion does not necessarily reflect an endorsement.

American College of Medical Genetics:

Gene testing for the determination of the presence of MID1 mutation to confirm or establish the diagnosis of X-Linked Opitz G/BBB Syndrome is not currently listed on the website of the American College of Medical Genetics.

BCBSA MPRM Policy:

BCBSA MPRM currently has no policy on genetic testing for the presence of MID1 mutation to confirm or establish the diagnosis of X-Linked Opitz G/BBB Syndrome.

Hayes Inc Assessment:

Hayes Inc. Assessment does not address genetic testing for X-Linked Opitz G/BBB Syndrome.

2014 Update

A literature search was conducted through December 2013. There was no new literature identified that would prompt a change in the coverage statement.

2015 Update

A literature search was conducted through December 2014. There was no new literature identified that would prompt a change in the coverage statement.

2016 Update

A literature search conducted through December 2015 did not reveal any clinical trials assessing the clinical utility of MID1 mutation testing to confirm or establish the diagnosis of X-Linked Opitz G/BBB Syndrome.

2017 Update

A literature search was conducted through December 2016. There was no new literature identified that would prompt a change in the coverage statement.

2018 Update

A literature search conducted using the MEDLINE database did not reveal any new information that would prompt a change in the coverage status.

2019 Update

A literature search was conducted through December 2018. There was no new information identified that would prompt a change in the coverage statement.

2020 Update

A literature search was conducted through December 2019. There was no new information identified that would prompt a change in the coverage statement.

2021 Update

Annual policy review completed with a literature search using the MEDLINE database through December 2020. 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 December 2021. 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 December 2022. 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 December 2023. No new literature was identified that would prompt a change in the coverage statement.

CPT/HCPCS:

References:

American College of Medical Genetics Practice Guidelines. Accessed at http://www.acmg.net//AM/Template.cfm?Section=Home3. Last accessed January 20, 2012.

Evaluation of Genomic Applications in Practice and Prevention. Accessed at http://www.egappreviews.org/. Last accessed January 20, 2012.

Hayes Genetic Test Evaluation. Accessed at https://www.hayesinc.com/subscribers/subscriberHome.do. Last accessed January 20, 2012.

Meroni G.(2011) X-Linked Opitz G/BBB Syndrome. GeneReviews; last update July 28, 2011. Accessed at http://www.ncbi.nlm.nih.gov/books/NBK1116/. Last accessed January 20, 2012.

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.
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