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    v1.0.28
    OpenPayerPolicy UpdatesGenetic & Molecular TestingCommunity Health Plan Washington carrier screening…
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    ModifiedCommunity Health Plan WashingtonPolicy N/A

    CONCERT GENETIC TESTING: Prenatal and Preconception Carrier Screening

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    Defines medical necessity criteria and coding for carrier genetic testing (expanded and basic panels and gene-specific tests) for individuals considering pregnancy or who are currently pregnant, and for reproductive partners when indicated.

    Policy Summary
    PayerCommunity Health Plan Washington
    PolicyPrenatal and Preconception Carrier Screening (Genetic Testing)
    Policy CodePolicy N/A
    Change TypeRevised criteria and codingadded CPT 81361expanded CFTR variant requirement
    Effective DateN/A
    Last ReviewNov 1, 2025
    Next Review DateNov 1, 2025
    Key ActionInclude relevant CPT/HCPCS codes and pregnancy/preconception indication on prior authorization requests; ensure documentation of counseling and family history.
    SourceLink
    POLICY UPDATE CHANGES

    Updated criteria and coding for multiple carrier testing categories including addition of CPT 81361 to basic carrier screening panel and changes to CFTR variant testing breadth (23 -> 100 variants).

    Clarified and separated FMR1 carrier screening criteria to distinguish carrier screening from diagnostic testing and added note about billing combination of 81243 with 81443 requiring Fragile X criteria.

    Aligned HBA1/HBA2/HBB sequencing and deletion/duplication criteria with ACOG recommendations for universal hemoglobinopathy screening and added clarifying investigational statement excluding fetal hemoglobin testing via circulating fetal DNA.

    CFTR, SMN1genes required on panels
    <=14basic panel max genes
    ≥100CFTR variant minimum
    81361CPT added
    ACOG/ACMGprofessional societies cited
    V2.2025policy version

    Coverage and Medical Necessity Criteria

    Expanded Carrier Screening Panels

    Covered when ALL of the following are met

    Expanded Carrier Screening Panels - coverage: Member is considering pregnancy or is currently pregnant AND panel includes CFTR and SMN1.

    Expanded panels may be considered medically necessary when both conditions are met.

    Basic Carrier Screening Panels

    Covered when ALL of the following are met

    Basic Carrier Screening Panels - coverage: Member is considering pregnancy or is currently pregnant AND panel includes CFTR and SMN1; panel consists of CFTR, SMN1/2, FMR1, HBB/HBA1/HBA2 and not more than 14 genes.<=14 genes

    ACMG recommends follow-up testing of partner based on identified pathogenic/likely pathogenic variant; panels are not recommended to be completed by both partners in tandem.

    Policy Summary
    PayerCommunity Health Plan Washington
    PolicyPrenatal and Preconception Carrier Screening (Genetic Testing)
    Policy CodePolicy N/A
    Change TypeRevised criteria and codingadded CPT 81361expanded CFTR variant requirement
    Effective DateN/A
    Last ReviewNov 1, 2025
    Next Review DateNov 1, 2025
    Key ActionInclude relevant CPT/HCPCS codes and pregnancy/preconception indication on prior authorization requests; ensure documentation of counseling and family history.
    SourceLink
    On This Page
    Coverage and Medical Necessity CriteriaWho and When Testing Is CoveredEligibility and Documentation RequirementsBilling Codes and Coding NotesActions Required by Ordering ProvidersExcluded or Not Supported UsesDefinitions and Key TermsBackground and RationalePolicy Updates and Revision Notes

    CFTR Targeted Variant Analysis

    Covered when ALL of the following are met

    CFTR Targeted Variant Analysis: Member or reproductive partner is considering pregnancy or is currently pregnant AND member has a close relative with a known pathogenic or likely pathogenic CFTR variant.

    Not supported for other indications.

    CFTR Sequencing, Deletion/Duplication, or Mutation Panel

    Covered when ANY of the following are met

    CFTR Sequencing/Del-Dup/Mutation Panel: Member or reproductive partner is considering pregnancy or is currently pregnant OR reproductive partner is a known carrier for cystic fibrosis.minimum ACMG-100 variant panel

    ACMG recommends testing at least 100 CFTR variants for carrier screening; not supported for other indications.

    CFTR Intron 9 PolyT and TG Analysis

    Covered when ALL of the following are met

    CFTR Intron 9 PolyT and TG Analysis: Member or reproductive partner is considering pregnancy or is currently pregnant AND member is known to have an R117H variant in the CFTR gene.

    Analysis not supported for other indications.

    SMN1 Targeted Variant Analysis

    Covered when ALL of the following are met

    SMN1 Targeted Variant Analysis: Member or reproductive partner is considering pregnancy or is currently pregnant AND member has a close relative with a known pathogenic or likely pathogenic SMN1 variant.

    Not supported for other indications.

    CFTR Intron 9 polyT and TG analysis

    Considered medically necessary when ALL of the following are met:

    CFTR polyT/TG criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant AND member is known to have R117H variant in CFTR.

    Analysis not supported for other indications.

    SMN1 targeted variant analysis

    Considered medically necessary when ALL of the following are met:

    SMN1 targeted criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant AND member has a close relative with a known pathogenic or likely pathogenic SMN1 variant.

    Not supported for other indications.

    SMN1 sequencing and/or deletion/duplication and SMN2 analysis

    Considered medically necessary when ANY of the following are met:

    SMN1/SMN2 sequencing criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant OR member's reproductive partner is a known carrier for SMA.

    Not supported for other indications.

    FMR1 CGG repeat analysis

    Considered medically necessary when ANY of the following are met:

    FMR1 criteria A: Member has premature ovarian insufficiency or elevated FSH before age 40.
    FMR1 criteria B: Member is considering pregnancy or is currently pregnant AND member has one of: close relative with fragile X full mutation (>200 repeats), close relative who is known carrier (55-200 repeats), close relative with unexplained intellectual disability/developmental delay/autism, OR close relative with premature ovarian insufficiency or elevated FSH <40.

    If 81243 is billed with 81443, the member should still meet Fragile X criteria.

    HBA1/HBA2/HBB targeted variant analysis

    Considered medically necessary when ALL of the following are met:

    HBA/HBB targeted criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant AND member has a close relative with a known pathogenic or likely pathogenic variant in HBA1, HBA2, or HBB.

    Not supported for other indications; partner's known carrier status may direct choice of sequencing testing.

    HBA1/HBA2/HBB sequencing and/or deletion/duplication

    Considered medically necessary when ALL of the following are met:

    HBA/HBB sequencing criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant.

    Not supported for other indications, including fetal hemoglobin testing via circulating fetal DNA; aligns with ACOG recommendation for universal hemoglobinopathy testing in pregnancy.

    Ashkenazi Jewish carrier panel

    Considered medically necessary when ALL of the following are met:

    Ashkenazi panel criteria: Member or member's reproductive partner is considering pregnancy or is currently pregnant AND member is of Ashkenazi Jewish ancestry AND the panel includes at minimum screening for the listed genes/conditions (e.g., HEXA, ASPA, CFTR, ELP1, BLM, FANCC, SMPD1, GBA, MCOLN1, G6PC1, TMEM216, BCKDHB, PCDH15, CLRN1).

    If only one partner is Ashkenazi Jewish, testing of that partner is medically necessary; testing of the other partner is medically necessary only if the Ashkenazi partner tests positive.

    DMD targeted and sequencing/deletion-duplication analysis

    Considered medically necessary when ALL of the following are met:

    DMD targeted: Member is considering pregnancy or is currently pregnant AND member has a close relative with a known pathogenic or likely pathogenic DMD variant.

    Targeted analysis not supported for other indications.

    DMD sequencing: Member is considering pregnancy or is currently pregnant AND member has a first- or second-degree relative diagnosed with Duchenne or Becker muscular dystrophy.

    When familial pathogenic variant is unknown and an affected male is not available, female relatives should be offered both CNV analysis and sequencing (~99% sensitivity).

    Expanded and Basic Carrier Screening Panels (professional guidance)

    Professional society recommendations summarized:

    ACOG guidance: ACOG states ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies; all patients considering pregnancy or pregnant should be offered screening for CF and SMA and CBC/thalassemia screening.

    After counseling, patients may decline testing.

    ACMG tiering: ACMG recommends offering Tier 3 screening (carrier frequency ≥1/200) to all pregnant/planning patients; follow-up partner testing should target the same gene/variant identified in the member.

    ACMG discourages offering lower tiers without Tier 3 and recommends Tier 4 only in consanguinity or specific family history.

    Selected test-specific coverage criteria (present in this document window)

    Covered when aligned with society guidance or specific clinical indications described below

    Fragile X (FMR1) carrier screening: Offer FMR1 premutation carrier screening to women with family history of fragile X-related disorders or intellectual disability suggestive of fragile X, and to women with unexplained ovarian insufficiency or elevated FSH before age 40; provide follow-up genetic counseling and offer prenatal diagnostic testing to known carriers.

    See ACOG practice bulletin No. 691 and ACMG Fragile X guidance

    Spinal Muscular Atrophy (SMN1) screening: Offer SMA screening to all women considering pregnancy or currently pregnant; in those with family history, review affected individual's molecular testing and carrier testing of related parent before testing the partner; if reports unavailable, recommend SMN1 deletion testing for the low-risk partner.

    ACOG and ACMG practice resources cited

    Universal hemoglobinopathy testing: Offer universal hemoglobinopathy testing at the initial prenatal visit to individuals considering pregnancy or currently pregnant; testing may be hemoglobin electrophoresis or molecular expanded carrier screening.

    ACOG Practice Advisory 2022

    Ashkenazi Jewish carrier screening: Offer screening for CF, Canavan, familial dysautonomia, and Tay-Sachs to Ashkenazi Jewish individuals who are pregnant or considering pregnancy; consider additional conditions per ACOG; when only one partner is Ashkenazi Jewish, screen that partner first and offer testing to the other partner if a carrier is found.

    ACOG Practice Bulletin No. 691

    DMD (Dystrophinopathies) carrier testing: When familial pathogenic variant is unknown and an affected male is not available, female relatives at risk should be offered CNV analysis and sequencing since combined approaches give ~99% sensitivity; identify heterozygous females for potential cardiac surveillance.

    EMQN and GeneReviews guidance

    The policy states that current evidence does not support use of carrier screening panels or gene-specific carrier tests outside of the prenatal or preconception context and the specific family/partner indications described. Specifically, expanded and basic carrier screening panels, CFTR targeted variant analysis, CFTR sequencing/deletion-duplication or mutation panels, CFTR intron 9 polyT/TG analysis, and SMN1 targeted variant analysis are considered not supported for indications other than when the member (or their reproductive partner) is considering pregnancy or is currently pregnant and any additional gene- or family-specific criteria are met. (See criteria sections for test-specific exceptions.)

    Analysis of the CFTR intron 9 polyT/TG region is limited: it is considered medically necessary only when the member (or their reproductive partner) is considering pregnancy or is currently pregnant and the member is known to carry the CFTR R117H variant. The policy explicitly states that CFTR intron 9 polyT/TG analysis is not supported for cystic fibrosis carrier screening for any other indications.

    Each gene-specific carrier test included in the policy (examples: CFTR, SMN1/SMN2, FMR1, HBA1/HBA2/HBB, DMD, and Ashkenazi Jewish panels) is covered only when the stated pregnancy/preconception and family- or partner-specific criteria are met. For targeted variant analyses (e.g., CFTR targeted, SMN1 targeted, DMD targeted) the member typically must have a close relative with a known pathogenic or likely pathogenic variant; sequencing and/or deletion/duplication testing for genes such as CFTR, SMN1/SMN2, HBA/HBB, and DMD likewise require the member or partner to be considering pregnancy or currently pregnant (or the partner to be a known carrier) to meet medical necessity. The policy notes that these gene-specific tests are not supported for other indications outside the enumerated criteria.

    Recent revisions clarified investigational language across the document: language previously framed as 'investigational' has been updated to indicate that current evidence does not support certain applications of tests for carrier screening. Revisions also align CFTR sequencing criteria with ACMG by increasing the recommended minimum CFTR variant set (23 → 100 variants) and clarify that hemoglobinopathy sequencing exclusions do not include fetal hemoglobin testing via circulating fetal DNA.

    Coverage determinations remain subject to the member's plan terms, conditions, exclusions, and limitations. This policy provides medical necessity guidance but does not override contractual coverage provisions; providers and members should consult the applicable evidence of coverage, certificate of coverage, or plan contract for any plan-specific exclusions or limits that may affect payment or authorization requirements.

    For Medicaid members, state Medicaid coverage provisions take precedence where they conflict with this clinical policy. Providers should follow applicable state Medicaid rules and the state Medicaid manual when those rules differ from the Health Plan policy guidance.

    Supported tests are limited to carrier screening performed in the context of preconception or prenatal care and to the specific partner/family-history scenarios described in each criteria set. In general, coverage is provided when the individual is considering pregnancy or is currently pregnant, panels include required genes (e.g., CFTR and SMN1 for expanded/basic panels), or when the member or a close relative meets the stated pathogenic/likely pathogenic variant or ancestry criteria for gene-specific testing. Professional guidance (ACOG/ACMG) cited in the policy informs which tests and thresholds (e.g., basic panels ≤ 14 genes, CFTR sequencing with ACMG-100 variant minimum) are aligned with medical necessity determinations.

    The policy restates that CFTR intron 9 polyT/TG testing is only medically necessary when the member (or their reproductive partner) is considering pregnancy or is pregnant and the member has an R117H CFTR variant; otherwise polyT/TG analysis for carrier screening is not supported.

    Language throughout the policy was changed from labeling certain statements as 'investigational' to the clearer phrasing that 'current evidence does not support' particular applications of the tests. This change was applied to multiple test sections to better reflect the available evidence and align with referenced society guidance.

    Who and When Testing Is Covered

    Individuals considering pregnancy or currently pregnant (and specific partner/family contexts as noted)

    Covered when aligned with society guidance or specific clinical indications described below

    Individuals considering pregnancy or currently pregnant: Most panels/tests require pregnancy/preconception indication; some tests require known family/pathogenic variants or partner carrier status.

    Tests may be denied if not performed for individuals who are not considering pregnancy or currently pregnant or if panels do not include required genes (CFTR, SMN1).

    Preconception or prenatal carrier screening when the member or their reproductive partner is considering pregnancy or is currently pregnant, often with additional family-history, ancestry, or partner-carrier conditions as specified per gene.

    Covered when aligned with society guidance or specific clinical indications described below

    Preconception or prenatal carrier screening indication: Preconception or prenatal carrier screening when the member or their reproductive partner is considering pregnancy or is currently pregnant, often with additional family-history, ancestry, or partner-carrier conditions as specified per gene.

    Documentation should show pregnancy/preconception status and relevant family history; follow counseling guidance.

    Fragile X premutation screening for women with family history suggestive of fragile X or women with unexplained ovarian insufficiency/elevated FSH before age 40

    Covered when aligned with society guidance or specific clinical indications described below

    Fragile X premutation screening - indication: Offer FMR1 premutation screening for women with family history suggestive of fragile X OR women with unexplained ovarian insufficiency/elevated FSH before age 40.

    Follow-up genetic counseling and prenatal diagnostic testing offered to known carriers.

    SMA screening for all women considering pregnancy or currently pregnant

    Covered when aligned with society guidance or specific clinical indications described below

    SMA screening - universal indication: Screening for SMA should be offered to all women considering pregnancy or currently pregnant.

    In family history cases, review affected individual's molecular test reports and consider SMN1 deletion testing for low-risk partner if needed.

    Universal hemoglobinopathy testing at initial prenatal visit for individuals considering pregnancy or currently pregnant

    Covered when aligned with society guidance or specific clinical indications described below

    Universal hemoglobinopathy testing: Offer universal hemoglobinopathy testing at the initial prenatal visit for individuals considering pregnancy or currently pregnant; testing may be hemoglobin electrophoresis or molecular expanded carrier screening.

    Aligns with ACOG Practice Advisory 2022.

    Ashkenazi Jewish carrier panel screening for CF, Canavan, familial dysautonomia, Tay-Sachs (and consideration of other listed disorders)

    Covered when aligned with society guidance or specific clinical indications described below

    Ashkenazi Jewish carrier panel - indication: Ashkenazi Jewish carrier panel screening for CF, Canavan, familial dysautonomia, Tay-Sachs (and consideration of other listed disorders) when member or partner is considering pregnancy or currently pregnant.

    When only one partner is Ashkenazi Jewish, test that partner first; if positive, offer testing to the other partner.

    Eligibility and Documentation Requirements

    Eligibility for CFTR targeted variant analysis and for SMN1 targeted variant analysis requires that the member (or their reproductive partner) be considering pregnancy or currently pregnant and that the member have a close relative with a known pathogenic or likely pathogenic variant in the respective gene. These eligibility conditions are specified in the CFTR and SMN1 targeted criteria sets.

    The detailed eligibility references indicate that 'close relatives' include first-, second-, and third-degree relatives on the same side of the family. For CFTR and SMN1 targeted testing, the policy requires documentation that a close relative has a known pathogenic or likely pathogenic variant in CFTR or SMN1, respectively, and that the member or partner is planning pregnancy or currently pregnant to meet medical necessity.

    If family history documentation is unavailable, the criteria direct providers to review available molecular testing reports of affected individuals when possible; for SMN1 in particular, when familial reports are not available the guidance advises targeted deletion testing of the low-risk partner as part of the evaluation prior to partner testing.

    For targeted variant analyses where a specific familial pathogenic/likely pathogenic variant is known in a relative, the policy supports targeted testing in the member when they meet the pregnancy/preconception requirement and have the qualifying family history; this is the expected pathway for CFTR and SMN1 targeted analyses.

    Additional eligibility notes align with professional society recommendations: ACOG recommends offering CF carrier screening to all women considering pregnancy or who are pregnant and suggests review of family-member testing reports when available. ACMG technical standards inform CFTR variant reporting (including R117H and polyT reporting) and recommend that polyT status be reported when R117H is detected.

    Operational eligibility notes for prior authorization and coding: basic carrier panels must include CFTR and SMN1 and be limited to not more than 14 genes; CPT coding updates (for example, addition of 81361 to represent hemoglobinopathy testing in basic panels) were included in the revisions and should be reflected in authorization submissions.

    The policy and eligibility language were aligned with ACOG and ACMG guidance: providers are encouraged to follow these societies' recommendations for who should be offered screening (e.g., all pregnant or planning-pregnancy patients for CF and SMA) and to proceed after appropriate counseling. Documentation of counseling and family-history review supports eligibility determinations.

    Billing Codes and Coding Notes

    Referenced CPT/HCPCS Codes for carrier screening and gene-specific testingmixed
    81243FMR1 repeat analysis / Fragile X carrier (listed)
    81257HBA/HBB targeted variant analysis (listed)
    81329SMN1 sequencing/deletion-duplication (listed)
    81336SMN1/SMN2 related (listed)
    81405Targeted gene panel (listed)
    81408DMD sequencing/deletion-duplication (listed)
    81443Expanded panel (listed)
    81479Unlisted molecular pathology procedure (listed)
    0400UProprietary test code (listed)
    0449UUNITY Carrier Screen (BillionToOne) (listed)
    1–10 of 29
    1/3
    Related ICD-10 Diagnosis Codes referencedICD-10
    O09Pregnancy supervision/encounter codes (listed)
    Z13Encounter for screening for genetic and chromosomal anomalies (listed)
    Z31Encounter for procreative management (listed)
    Z34Supervision of normal pregnancy (listed)
    Z36Antenatal screening (listed)
    Z84Family history of genetic disease (listed)
    Z83.49Family history of other specified conditions (listed)
    Referenced CPT CodesCPT
    81243FMR1 repeat analysis (referenced as billed with additional carrier panel code)
    Referenced CPT/HCPCS codes in revisions and reference tablemixed
    81243FMR1 repeat analysis (Fragile X) — referenced in billing combination note
    81443Exome/panel code referenced in combination with 81243 note
    81361Added CPT code for hemoglobinopathy tests included in basic carrier screening panel
    81222Referenced replacement in panel composition (CFTR/related?)
    81223Referenced replacement in panel composition (CFTR/related?)
    81479Unlisted molecular pathology procedure referenced as replacement in reference table edits
    0236USMN2 Deletion/Duplication analysis (noted in criteria edits)
    Basic carrier panel gene limit
    Basic panel gene countBasic carrier screening panels consist of CFTR, SMN1/2, FMR1, HBB/HBA1/HBA2 and must include no more than 14 genes.
    Panel examplesExamples of basic 14-gene panels include Inheritest 14-gene (Labcorp), Prenatal Carrier Panel (Quest), Foresight Fundamental (Myriad), UNITY Carrier Screen (0449U).
    Coverage indicationBasic panels are medically necessary only when the member is considering pregnancy or is currently pregnant and the panel includes CFTR and SMN1.
    CFTR variant minimum
    ACMG minimum CFTR variant setACMG 2023 position statement recommends a minimum CFTR variant set of 100 variants for carrier screening.
    PurposeThe 100-variant set supersedes the prior 23-variant recommendation and applies when CFTR carrier testing is pursued.
    Policy alignmentCFTR sequencing/deletion-duplication panels in this policy reference the ACMG minimum variant set of 100 variants for carrier testing.
    Basic panel gene count and ACMG tiers
    Basic panel gene capBasic carrier screening panels include CFTR, SMN1/2, FMR1, HBB/HBA1/HBA2 and must contain not more than 14 genes.
    ACMG Tier 3 recommendationACMG recommends offering Tier 3 carrier screening (carrier frequency ≥1/200) to all patients who are pregnant or planning pregnancy.
    Panel strategy guidanceACOG accepts ethnic-specific, panethnic, and expanded carrier screening strategies and recommends offering CF and SMA screening to all patients considering pregnancy.

    Actions Required by Ordering Providers

    Prior Authorization

    Submit codes and indication for authorization

    Include the specific CPT/HCPCS procedure codes and the indication (pregnancy or preconception) when submitting prior authorization requests for carrier screening and gene-specific tests. The policy lists numerous codes that should be provided on authorization requests.

    • Provide the procedure code(s) from the policy reference table (examples include: 81220, 81221, 81243, 81329, 81361, 81443, 0449U).
    • Document that the member is considering pregnancy or is currently pregnant when requesting authorization.
    Prior Authorization

    Pregnancy/ancestry/family-history requirement

    Order hemoglobinopathy panels (HBA1/HBA2/HBB sequencing or targeted) and Ashkenazi Jewish carrier panels only when the member (or reproductive partner) is considering pregnancy or currently pregnant and meets ancestry or family-history criteria specified in the policy.

    • If only one partner is Ashkenazi Jewish, test that partner first; test the other partner only if the Ashkenazi partner is positive.
    • Hemoglobinopathy testing may be performed by sequencing/deletion-duplication or targeted methods per the criteria.
    Billing Rule

    Updated panel coding — include CPT 81361

    When requesting authorization for basic carrier screening panels that include hemoglobinopathy testing, include CPT code 81361 as part of the panel coding, reflecting the policy update to add 81361 to the basic panel PRT and criteria.

    • Ensure prior authorization and claims include CPT 81361 when the basic panel includes hemoglobinopathy testing.
    Prior Authorization

    Prior authorization may be required

    Be aware that this clinical policy is intended to guide medical necessity determinations and may be used to assist coverage decisions; prior authorization may be required per plan administrative policies.

    • Follow plan-specific prior authorization procedures; the policy itself does not guarantee coverage.
    Note
    Step Therapy

    Use targeted testing when familial pathogenic variants are known

    If a familial pathogenic/likely pathogenic CFTR variant is confirmed in both biological parents or in an affected full sibling, targeted variant testing methods may be sufficient instead of comprehensive CFTR sequencing panels.

    • If familial variants are known, document the familial variant(s) and consider targeted testing rather than full gene sequencing per ACMG guidance.
    Note
    Note
    Documentation Required

    Document pregnancy/preconception status and panel gene list; counsel patient

    Document the member's pregnancy or preconception status and specify which genes are included on the ordered panel; pre- and post-test genetic counseling is strongly advised and should be documented when performed.

    • Record whether the member is considering pregnancy or currently pregnant on the order and authorization.
    • Document which genes are included in the panel and any counseling provided (pre- and/or post-test).
    Documentation Required

    FMR1 documentation — require ovarian insufficiency or pregnancy plus qualifying family history

    For FMR1 (Fragile X) repeat analysis, provide documentation of either premature ovarian insufficiency or an elevated FSH level before age 40, or that the member is considering pregnancy or currently pregnant plus the qualifying family-history criteria listed in the policy.

    • If billing 81243 with a panel code (e.g., 81443), ensure the member still meets the Fragile X criteria in the policy.
    Documentation Required

    Review family history and molecular reports; document counseling

    Prior to testing, review and include relevant family history and, when available, molecular testing reports of affected relatives; document this review and provide follow-up genetic counseling for identified carriers or intermediate/abnormal results.

    • If molecular reports of affected individuals are available, include them in the authorization/medical record review before ordering partner or family testing.
    • Document provision of follow-up genetic counseling when carriers or intermediate results are identified.
    Documentation Required

    Provide documentation consistent with coverage documents

    Follow the member's coverage documents (evidence of coverage, certificate of coverage, policy, contract) when submitting claims or requesting coverage; the plan may require documentation consistent with those terms.

    • Provide supporting documentation as requested by the plan to demonstrate that testing meets the coverage criteria and the member's plan terms.
    Denial Risk

    Coverage limited to preconception/pregnancy indications — denial risk

    Tests billed as carrier screening may be denied if performed for indications other than individuals considering pregnancy or currently pregnant, or if required genes (e.g., CFTR and SMN1) are not included on claimed expanded or basic panels.

    • Confirm the indication (preconception or prenatal) and panel composition before ordering and billing to avoid denial.
    Denial Risk

    CFTR polyT/TG testing allowed only with R117H present

    Analysis of CFTR intron 9 polyT and TG regions is medically necessary only when the member or their reproductive partner is considering pregnancy or is currently pregnant AND the member is known to have the R117H CFTR variant; otherwise testing is not supported and may be denied.

    • Document presence of R117H variant when requesting polyT/TG analysis to meet coverage criteria.
    Denial Risk

    SMN1 targeted testing limited to pregnancy/preconception with qualifying family history

    SMN1 targeted variant analysis for SMA carrier screening is limited to members (or their reproductive partner) who are considering pregnancy or currently pregnant and who have a close relative with a known pathogenic or likely pathogenic SMN1 variant; orders outside these criteria are not supported.

    • Document the qualifying close-relative SMN1 pathogenic/likely pathogenic variant when requesting targeted SMN1 testing.
    Denial Risk

    SMN1/SMN2 sequencing and CNV testing limited to pregnancy/preconception or partner carrier status

    SMN1 sequencing/deletion-duplication and SMN2 analysis are considered medically necessary only for members (or their reproductive partners) who are considering pregnancy or currently pregnant, or when the partner is a known SMA carrier; use of these tests for other indications is not supported.

    • Document the reproductive context or partner carrier status when requesting SMN1/SMN2 sequencing or CNV testing.
    Billing Rule

    Billing combination note — 81243 with 81443 requires Fragile X criteria

    If billing FMR1 repeat analysis (81243) together with a panel code such as 81443, ensure the patient meets the Fragile X carrier criteria in the policy; failure to meet Fragile X criteria when both codes are billed may result in denial.

    • When submitting claims that include both 81243 and 81443, include documentation that the member satisfies the Fragile X criteria (e.g., ovarian insufficiency or qualifying family history).
    Denial Risk

    Denial risk from plan coverage limits

    Coverage decisions and benefit administration are subject to all terms, conditions, exclusions, and limitations of the member's coverage documents; absence of coverage in the plan documents may lead to claim denial despite meeting policy criteria.

    • Verify member eligibility and plan-specific coverage rules before ordering testing and submitting claims.

    Excluded or Not Supported Uses

    The policy specifies that screening indications outside of prenatal or preconception scenarios (or the explicit family/partner criteria) are not supported by current evidence. Tests performed for routine population screening, asymptomatic individuals not planning pregnancy, or other non-specified indications may be denied as not medically necessary.

    Detailed not-covered language reiterates that expanded and basic carrier panels, CFTR targeted and sequencing approaches, CFTR polyT/TG analysis, and SMN1 targeted testing are not supported by current evidence when used for indications outside the pregnancy/preconception context or without meeting the specific family-history/partner criteria described in each test section.

    The policy reference table was updated and certain prior listed panels and test codes were removed or replaced; examples include updates to CFTR variant testing minimums and addition of CPT 81361 to basic panel coding. Removed or renamed panel listings and code changes are reflected in the Policy Reference Table and supporting coding modules.

    Definitions and Key Terms

    Expanded carrier screening panel definition
    DefinitionExpanded carrier screening: a multi-gene test performed for individuals considering pregnancy or who are pregnant that includes at minimum CFTR and SMN1.
    Use caseOffered to individuals considering pregnancy or currently pregnant; may include many additional genes beyond basic panels.
    Partner testingACMG recommends follow-up screening of the partner using analysis of the same gene if a pathogenic or likely pathogenic variant is identified in the member.
    Basic carrier screening panel definition
    DefinitionBasic carrier screening panel: a panel that includes CFTR, SMN1/2, FMR1, and HBB/HBA1/HBA2 and contains not more than 14 genes, intended for individuals considering pregnancy or who are pregnant.
    Examples and codesExamples include several commercial 14-gene prenatal panels; related CPT/HCPCS and ICD codes are listed in the policy coding section.
    Coverage limitationBasic panels are medically necessary only for members considering pregnancy or currently pregnant and when the panel includes CFTR and SMN1.
    Tier 3 carrier screening (ACMG) definition
    DefinitionTier 3 carrier screening (ACMG): genes with carrier frequency ≥1/200; ACMG recommends offering Tier 3 screening to all pregnant patients and those planning pregnancy.
    Tiering overviewACMG tiered system: Tier 1 (CF+SMA+risk-based), Tier 2 (≥1/100), Tier 3 (≥1/200, includes X-linked), Tier 4 for consanguinity or warranted history.
    Partner offerReproductive partners may be offered Tier 3 screening when performed simultaneously with their partner or as follow-up when a partner is identified as a carrier.
    CFTR minimum variant set definition
    DefinitionCFTR minimum variant set: ACMG 2023 position statement recommends testing a minimum set of 100 CFTR variants for carrier screening.
    Supersedes prior setThe 100-variant set replaces the previous ACMG recommended set of 23 CFTR variants.
    Policy implicationCFTR sequencing/deletion/duplication criteria in this policy reference the ACMG minimum 100-variant recommendation for carrier testing.
    Close relatives definition
    DefinitionClose relatives: first-, second-, and third-degree relatives on the same side of the family.
    First-degree examplesParents, siblings, and children.
    Second-/third-degree examplesSecond-degree: grandparents, aunts/uncles, nieces/nephews, grandchildren, half-siblings. Third-degree: great-grandparents, great aunts/uncles, great grandchildren, first cousins.
    Clinical policy definition
    DefinitionClinical policy: a guide to medical necessity developed from review of standards of practice, literature, and professional guidelines to assist coverage decisions.
    ScopeProvides guidance for coverage determinations but does not guarantee payment; coverage subject to plan terms, exclusions, and applicable laws.
    Intended useUsed to assist in making coverage decisions and administering benefits; not a substitute for clinical judgment or counseling.

    Background and Rationale

    Carrier screening is intended to identify asymptomatic individuals who carry pathogenic variants for autosomal recessive or X-linked single-gene disorders to inform reproductive risk. Professional societies recommend offering carrier screening in the preconception or prenatal period, and the policy emphasizes that pre- and post-test genetic counseling is strongly advised to support informed decision-making and follow-up when carriers or intermediate results are identified.

    Policy Updates and Revision Notes

    2025-11-01policy_reviewLatest

    Policy last reviewed (document lists last_review 2025-11-01) and updated to version V2.2025 per internal tracking.

    2024-11-00criteria_and_coding_update

    Added CPT 81361 to the Basic Carrier Screening Panel Policy Reference Table and criteria to reflect inclusion of hemoglobinopathy testing; updated FMR1 criteria name to distinguish carrier screening from diagnostic testing and updated Policy Reference Table entries.

    2024-04-00criteria_update

    Aligned HBA1/HBA2/HBB sequencing and deletion/duplication criteria with ACOG recommendations and updated CFTR sequencing variant count from 23 to 100 consistent with 2023 ACMG CFTR guidance; clarified investigational statement excluding fetal hemoglobin testing via circulating fetal DNA.

    2024-01-24technical_revision

    Changed number of tested CFTR variants in CFTR Sequencing/Deletion/Duplication criteria from 23 to 100 and updated background text to reflect the 2023 ACMG statement on CFTR variant testing (approval date 01/24).