Obtain prior authorization for carrier screening panels (exceptions noted)

Carrier screening tests described in this policy require prior authorization. Providers must submit prior authorization requests for the carrier screening panels and listed molecular/genetic procedure codes identified in the policy; note that some individual CPTs are called out as covered without preauthorization per policy notes (for example, CPT 81220 and CPT 81329).

• Submit prior authorization for expanded and basic carrier screening panels and for the molecular/genetic CPT/CPT-PLA/HCPCS codes listed in the policy tables.
• CPT 81220 (CFTR) and CPT 81329 (SMN1) are noted in the policy as covered benefits that do not require preauthorization per the policy notes; verify coverage notes when submitting.
• When billing proprietary panel PLA codes (e.g., 0218U, 0236U, 0400U, 0449U) include the authorization for that specific code.

SMN1 sequencing/deletion‑duplication and related tests may be denied if criteria unmet

Tests labeled investigational in the policy (for example, SMN1 sequencing/deletion/duplication analysis or SMN2 analysis when criteria are not met) may be denied if the member does not meet the specified medical necessity criteria.

• Confirm SMA testing meets the policy criteria (member or partner considering pregnancy or partner known carrier) before submitting sequencing/deletion/duplication requests.
• If criteria are not met, anticipate denial as investigational.

Submit prior authorization using the listed genetic/molecular codes

Prior authorization is required for carrier screening tests and the molecular/genetic procedure codes listed in the policy tables; providers should submit the authorization request with supporting clinical records and the specific CPT/CPT‑PLA/HCPCS code to be billed.

• Include the exact CPT or CPT‑PLA code (for example 0218U, 0236U, 0400U, 0449U) on the authorization request.
• Attach supporting documentation demonstrating the member meets the medical necessity criteria for the specific test requested.

Preauthorization required for listed molecular pathology and HCPCS codes

Preauthorization is required for reproductive carrier screening tests and for the molecular pathology CPT codes and HCPCS identified in the policy (examples include 81412, 81443, 81479, and HCPCS S3845).

• When requesting authorization, reference the policy-listed molecular pathology CPT codes (e.g., 81412, 81443) or HCPCS (S3845) that correspond to the test.
• Ensure the selected code matches the panel definition and panel size requirements in the policy.

No step therapy required

No step therapy requirements are specified in this policy for carrier screening.

Order Ashkenazi panel for the Ashkenazi partner first; test partner only if positive

For Ashkenazi Jewish panel testing, if only one partner is of Ashkenazi Jewish ancestry, testing that partner first is medically necessary; the other partner should only be tested if the Ashkenazi partner’s result is positive.

• Order the Ashkenazi Jewish panel for the partner of Ashkenazi ancestry first.
• Only order testing of the other reproductive partner if the Ashkenazi partner is identified as a carrier.

Document pre‑ and post‑test genetic counseling

Providers should ensure pre‑test and post‑test genetic counseling is performed and documented; counseling should include informed decision‑making, discussion of potential secondary/incidental findings, and a plan for return of results.

• Document that pre‑test counseling addressed the option to opt out of secondary findings and established a plan for returning results.
• Include genetic counseling report in the authorization and medical records.

Provide clinical documentation supporting pregnancy status and qualifying family or partner history

Clinical documentation submitted with authorization requests must support the member’s status (considering pregnancy or currently pregnant) and any qualifying family history or partner carrier status required by the specific test criteria.

• Include documentation that the member is considering pregnancy or is currently pregnant when required by the criteria.
• Provide records of a close relative with a known pathogenic or likely pathogenic variant when that is a criterion for the requested test.
• If testing because of partner carrier status, include the partner’s test results showing carrier status.

Attach History & Physical, office notes, and genetic counseling report to the authorization

Include recommended medical records to support authorization: History & Physical report, office visit notes, and the genetic counseling report.

• Attach History and Physical, relevant office notes, and the genetic counseling report to the prior authorization request.
• Lack of these records may prevent support of prior authorization or claim adjudication.

Submit gene lists, methodology, and exact test code with authorization

Providers must submit documentation that the test meets the panel definitions (for example, gene lists and test methodology) and specify the CPT/CPT‑PLA/HCPCS code that corresponds to the panel being requested.

• Provide the laboratory’s gene list or panel composition to demonstrate the panel meets the policy minimum gene counts (eg, Ashkenazi panel ≥9 genes; severe inherited conditions panel ≥15 genes).
• State the laboratory methodology and the exact billing code (e.g., 0400U, 0449U, 81412, 81443) on the authorization request.

Avoid billing expanded/basic panels for non‑pregnancy indications (risk of denial)

Expanded and basic carrier screening panels billed for indications other than members considering pregnancy or currently pregnant (except where partner‑carrier context applies) are considered investigational and may be denied.

• Do not request authorization for expanded or basic panels for indications outside preconception/prenatal unless documentation shows a policy‑allowed partner‑carrier context.
• If an expanded or basic panel is submitted for a non‑covered indication, expect denial for investigational use.

Do not bill Fragile X testing outside specified criteria (denial risk)

Fragile X (FMR1 CGG repeat analysis) billed outside the specified criteria (premature ovarian insufficiency, or pregnancy/considering pregnancy with qualifying family history) is considered investigational and may be denied.

• Only request Fragile X testing when the member meets the listed criteria (premature ovarian insufficiency or qualifying family history) or when pregnant/considering pregnancy with qualifying family history.
• If billing FMR1 testing with a carrier panel (e.g., 81443), ensure the member meets the Fragile X criteria even when billed with the panel.

Hemoglobinopathy testing billed outside pregnancy/qualifying history may be denied

Hemoglobinopathy targeted or sequencing testing performed outside the indications (not pregnant/considering pregnancy or lacking qualifying family history) is investigational and may be denied.

• Ensure hemoglobinopathy testing requests include documentation of pregnancy intent/status or qualifying family history.
• Fetal hemoglobin testing via circulating fetal DNA is investigational and excluded from coverage.

Insufficient documentation may result in denied authorization or claim

Failure to provide the recommended medical records (History & Physical, office notes, genetic counseling report) or required documentation may lead to inability to support prior authorization or claim adjudication.

• Include all recommended records with the authorization request to avoid processing delays or denials.
• If requested documentation is missing, the payer may deny the request for insufficient information.

Verify and obtain preauthorization per policy header

Preauthorization is required for reproductive carrier screening as indicated in the policy header; do not send charges for these panels without obtaining authorization when required.

• Verify the policy header and notes for specific CPT exceptions before ordering.
• Obtain authorization prior to testing to ensure coverage where required.