Genetic (Genomic) Testing Coverage Criteria
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Defines medical necessity, prior authorization, documentation, and coverage criteria for genetic and genomic testing for members of Baylor Scott & White Health Plan and affiliated lines of business.
No material clinical or coverage changes in this revision.
Coverage Criteria
General medical necessity criteria — Covered when ALL of the following are met.
Covered when ALL of the following are met:
ALL of the following
- Appropriate genetic counseling occurs before and after testing. Counseling must be by a practitioner with expertise in the genetic aspects of the condition being evaluated and who will discuss the results and clinical implications.
Documentation of counseling must accompany the preauthorization request. Evidence should include discussion of possible results (positive, negative, uncertain), test limitations, risk evaluation, inheritance patterns, informed consent, and a plan for post-test counseling. Counseling must not be performed by practitioners employed by testing companies due to conflict of interest.
- There is a reasonable expectation, based on family history, three-generation pedigree (where appropriate), risk factors, and/or symptomatology, that a genetically inherited or acquired condition exists or the member is at direct risk of inheriting the mutation (pre-symptomatic).
A three-generation pedigree MUST accompany the request where appropriate.
- Knowledge of the presence or absence of the condition would directly affect medical care of the member.
The disease must be treatable and/or preventable, and the test results must lead to a change in surveillance frequency and/or treatment intensity for that disease.
- The requested test is the smallest, most targeted study expected to answer the clinical question (single-gene test preferred when appropriate; panels allowed only when multiple genes plausibly explain the disorder).
Multigene panels must list included genes and rationale; broad panels are not medically necessary when a focused test is available. Multiple panels tested concurrently are not medically necessary.
- The test is performed in a CLIA-certified laboratory, is FDA-approved when applicable, and is recommended by recognized national guidelines.
When possible, testing should be performed at a contracted/network laboratory. If a non-contracted lab is used, the provider must document the need and inform the member of potential out-of-pocket differences.
- The request is submitted with the Baylor Scott & White Health Plan 'Statement of Medical Necessity for Genetic Testing' or equivalent documentation that answers the required justification questions and clearly explains how results will improve or change medical management.
A generic statement that a test 'is medically necessary' is insufficient; the request must state specific changes in management or surveillance that would occur with positive or negative results.
- Testing frequency limits are respected (generally once per lifetime for a specific mutation or panel, or once per pregnancy for prenatal testing), unless justified by changed guidelines or need for reinterpretation of results.
Exceptions may be considered with supporting rationale.
Specific test guidance — Tests with specific policy guidance.
Tests with specific policy guidance:
ALL of the following
- Cell-free DNA screening tests for microdeletions (CPT 81422) are NOT medically necessary.
- Whole genome sequencing may be medically necessary in clinically affected neonatal and pediatric patients to identify or confirm a genetic etiology when targeted studies have failed.
In most cases whole genome sequencing will not be found medically necessary unless more targeted studies have failed to identify a mutation.
Coverage contingent on completed prior authorization and clinical justification.
Coverage is contingent on completion of prior authorization and provision of clinical justification. Requests must include answers to the clinical justification questions below and supporting documentation.
ALL of the following
- A completed prior authorization is required before testing is performed.
Preauthorization must include documentation described in this policy (counseling documentation, pedigree when appropriate, laboratory information, and Statement of Medical Necessity or equivalent).
- Provider must justify the clinical indication for each requested test by addressing the specific questions in the Statement of Medical Necessity or the provided Medical Information form.
Required questions include: why the test is appropriate; whether the beneficiary exhibits clinical features or a family member has an identified variant; evidence of informed consent and genetic counseling; scientific validity of the test; willingness to undergo potential interventions; how results will specifically alter medical management; test cost; and whether a multigene panel is more cost-effective than individual tests.
- Requests lacking required justification, pedigree, evidence of counseling/informed consent, or a clear explanation of how results will change management are subject to denial.
The absence of documentation supporting medical necessity or use of an out-of-network laboratory without justification may result in member notification of out-of-pocket costs and/or denial of coverage.
Predictive/diagnostic/prognostic testing when reasonable expectation based on family history/pedigree/risk/symptoms that a genetic condition exists and results will directly affect medical management.
Predictive/diagnostic/prognostic testing — Covered when:
ALL of the following
- There is reasonable expectation based on family history, pedigree, risk factors, and/or symptoms that a genetic condition exists and testing results will directly affect medical management.
A three-generation pedigree must accompany requests where appropriate.
Whole genome sequencing in clinically affected neonatal and pediatric patients when targeted studies have failed.
Whole genome sequencing —
ALL of the following
- May be medically necessary in clinically affected neonatal and pediatric patients when more targeted studies have failed to identify a mutation.
Whole genome sequencing is generally not medically necessary unless targeted testing has been unsuccessful.
Requirement that provider justify clinical indication for each requested test per listed questions; must document how results will alter management and provide references.
Provider must justify clinical indication for each requested test by answering the following and providing supporting references where applicable:
ALL of the following
- Why is the test appropriate for the patient?
- Does the beneficiary exhibit clinical features of the mutation in question? If not, has a genetic variant been identified in a family member?
- Has the patient given informed consent to the genetic test?
- Has genetic counseling been provided?
- What is the scientific validity of the testing? Provide references or links.
- Is the patient willing to undergo any increased interventions that may result from testing?
- How will the results specifically impact or alter medical management of the patient?
- What is the cost of the test?
- Is multigene panel testing more cost efficient than combined single-gene testing?
There are no additional explicit exclusions in this section beyond those listed; requests missing required clinical justification or documentation may be denied as outlined above.
Coding and Frequency Limits
| 81161 | DMD (dystrophin) deletion/duplication analysis |
| 81220 | CFTR gene analysis; common variants |
| 81221 | CFTR gene analysis; known familial variants |
| 81222 | CFTR gene analysis; duplication/deletion variants |
| 81223 | CFTR gene analysis; full gene sequence |
| 81224 | CFTR intron 8 poly-T analysis |
| 81229 | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities |
| 81238 | F9 gene analysis (hemophilia B) |
| 81243 | FMR1 gene analysis (fragile X) |
| 81259 | HBA1/HBA2 gene analysis (alpha thalassemia) |
| No codes listed |
| ICD-10 Codes: | Placeholders on form for diagnosis codes supporting the test request |
| CPT Code, 1 = Test. CPT Code, 2 = CPT Code. CPT Code, 3 = Test. | Placeholders on form for CPT codes associated with requested genetic tests |
Provider Actions & Prior Authorization
Prior Authorization Required
Prior Authorization Required — Genetic/genomic testing (including specific CPT/HCPCS codes) requires prior authorization. Requests must include the diagnosis and clinical documentation supporting medical necessity. Use the SWHP Genetic Testing Prior Authorization Form for submission.
- PA required for listed genetic test CPT/HCPCS codes (see policy code list)
- Include diagnosis and documentation with PA request
- Use SWHP Genetic Testing Prior Authorization Form
Submit SWHP Prior Authorization Form
Submit the SWHP Genetic Testing Prior Authorization Form (most recent version) with each request. The form captures member and provider identification, supplying provider details, requested test(s), ICD-10 and CPT codes, and a dedicated Medical Information section that must be completed to justify each test.
- Form fields required: member name, SWHP ID, DOB, gender
- Requesting provider name and NPI; supplying provider name and NPI
- Requested genetic test(s) and list of genes for panels; ICD-10 and CPT codes
- Complete Medical Information section addressing the clinical justification questions
Testing Order Hierarchy — prefer single-gene when appropriate
Testing order hierarchy and panel selection: order the least complex test that will answer the clinical question. Single-gene testing is preferred when it will provide the needed diagnostic or management information. If a panel is requested, document why single-gene testing is insufficient.
- Authorize the smallest plausible gene panel to limit variants of uncertain significance
- Broad multi-gene panels are not medically necessary when a more focused study is available
- If a single-gene test answers the question, it will generally be considered medically necessary
Panel vs Single-Test Justification
Panel vs single-test justification: when requesting multigene panels, the PA must include evidence that multiple genes can explain the phenotype or that genes on the panel are plausible causes. The list of genes on the panel should be provided and justified. Multiple panels tested at the same time are not medically necessary.
- Provide rationale that two or more genes are responsible for the condition or several genes could cause disease in the family
- Include the panel gene list and explanation for choosing that panel
- Address cost-efficiency: is a multigene panel more cost effective than multiple single-gene tests?
Required Documentation and Pedigree
Required documentation for PA: pre- and post-test genetic counseling documentation must accompany the request, including evidence of informed consent and a plan for post-test counseling. A three-generation pedigree must be provided where appropriate. The completed Medical Information section of the PA form must fully answer the clinical questions — incomplete or insufficient justification may result in denial.
- Documentation must show genetic counseling by a qualified practitioner not employed by testing companies
- Counseling documentation should include discussion of possible results, testing limitations, inheritance, penetrance, consent, and post-test plan
- A three-generation pedigree MUST accompany requests where appropriate
- PA must include clear explanation how results will change medical management; the statement 'is medically necessary' alone is insufficient
- Failure to answer the form’s clinical questions or provide sufficient justification may lead to denial
Denial Risk — Insufficient Clinical Justification
Insufficient clinical justification is a denial trigger. Requests for non-medical genetic testing (paternity, ancestry, non-disease traits) or requests lacking documentation that results will alter management may be denied. Provide complete clinical answers on the PA form to avoid delays or denials.
- Non-medical testing is not medically necessary and may be denied
- If the request does not document how results will change treatment or surveillance, it may be denied
- Ensure all clinical questions on the PA form are fully answered and supporting records attached
Eligibility Requirements
Where appropriate, requests for genetic testing must be accompanied by a three-generation pedigree to support family history and risk assessment. Coverage decisions will be based on the documentation provided (pedigree, clinical notes, responses on the prior authorization form) demonstrating that testing meets the medical necessity criteria.
No additional top-level eligibility exceptions are specified in this policy segment. Eligibility for coverage is determined by the medical necessity criteria and the documentation supplied with the prior authorization request.
The prior authorization form explicitly asks whether a familial variant has been identified and requests justification of clinical features when the patient does not exhibit phenotype. Providers must answer these form questions and supply clinical rationale; the policy does not establish any universal eligibility exceptions in this segment—each request is evaluated based on the completed form and supporting documentation.
Definitions
Not Covered / Not Medically Necessary
Not covered: Genetic testing performed solely for non-medical purposes (including paternity, ancestry testing, GWAS, and non-disease trait testing), and routine or ongoing long-term genetic counseling services are examples of services that will not be authorized under this policy.
Not covered: Cell-free DNA microdeletion screening (CPT 81422) is specifically stated as not medically necessary and is therefore not covered.
This document segment does not list additional specific tests or indications as not covered beyond the items already called out. However, the policy emphasizes that lack of clinical justification or missing required documentation on the prior authorization form can result in denial or non-coverage.
Background
Genetic testing is intended for predictive, diagnostic, or prognostic purposes. Testing should be performed only when there is a reasonable expectation—based on family history, pedigree analysis, risk factors, or symptomatology—that an inherited or acquired genetic condition exists and when results are expected to directly affect medical management (treatment or surveillance). Prior to testing, providers must ensure appropriate pre-test genetic counseling by a practitioner with expertise and document how results would change patient care.
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