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CurrentCommunity Health Plan WashingtonPolicy N/A

Concert Genetic Testing: Hematologic Conditions (Noncancerous) — Genetic & Molecular Testing Coverage Criteria

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Criteria for when genetic and molecular tests for noncancerous hematologic disorders are considered medically necessary or investigational for members of the health plan; applies to providers ordering such tests through the Concert platform.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGenetic testing for hematologic (noncancerous) conditions — coverage criteria for inherited thrombophilia, hemoglobinopathies, hemophilia, VWD, G6PD, and other rare hematologic disorders

Policy CodePolicy N/A

Change TypeNo material change

Effective DateN/A

Last ReviewNov 20, 2024

Next Review DateNov 20, 2025

Key ActionCheck the Concert Platform for registered tests and any authorization requirements before ordering.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

2023ASH guideline year referenced

GeneReviewsPrimary resource cited

V1.2025Policy version

multipleConditions with criteria

CPT codes citedCPT examples cited

Coverage Criteria — When Testing Is Medically Necessary

Inherited Thrombophilia (F5/F2) - Medically Necessary Criteria

F5 (81241) and F2 (81240) variant analysis to confirm or establish a diagnosis of an inherited thrombophilia is considered medically necessary when:

Entry A: The member had a venous thromboembolism (VTE) that is provoked by at least one of: provoked by a nonsurgical major transient risk factor; provoked by pregnancy or postpartum; or provoked by combination oral contraceptive use.

Entry B: Testing is considered when the member is planning to discontinue anticoagulation after venous thromboembolism (VTE) AND has history of cerebral venous thrombosis OR splanchnic venous thrombosis.

Entry C: Member has a minor provoking risk factor for VTE (e.g., immobility, minor injury, illness, infection) AND either has two first- or second-degree relatives with VTE OR meets both: at least one relative had VTE under age 50 AND the relative's thrombophilia status is unknown.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGenetic testing for hematologic (noncancerous) conditions — coverage criteria for inherited thrombophilia, hemoglobinopathies, hemophilia, VWD, G6PD, and other rare hematologic disorders

Policy CodePolicy N/A

Change TypeNo material change

Effective DateN/A

Last ReviewNov 20, 2024

Next Review DateNov 20, 2025

Key ActionCheck the Concert Platform for registered tests and any authorization requirements before ordering.

SourceLink

On This Page

Entry D: Female planning pregnancy AND has a first- or second-degree relative known to be homozygous for factor V Leiden OR known to be a compound heterozygote for factor V Leiden and prothrombin (F2) mutation.

Entry E: Member is receiving systemic cancer treatment AND does not have a personal history of VTE AND has a first-degree relative with VTE.

Inherited Thrombophilia - Investigational

Investigational: F5 and F2 variant analysis is investigational for all other indications, including fetal loss or adverse pregnancy outcomes (examples: placental abruption, fetal growth restriction, preeclampsia).

Hemoglobinopathies - Medically Necessary Criteria

HBA1/HBA2 and/or HBB variant analysis to confirm or establish a diagnosis of a hemoglobinopathy (alpha-thalassemia, beta-thalassemia, or sickle cell disease) is considered medically necessary when:

Entry A: The member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) are positive for a hemoglobinopathy.

Entry B: The member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) are inconclusive to diagnose or rule out a hemoglobinopathy.

Hemoglobinopathies - Investigational

HBA1/HBA2 and/or HBB variant analysis - Investigational

Investigational: Variant analysis for hemoglobinopathies is investigational for all other indications not meeting the above criteria.

Hemophilia A/B - Medically Necessary Criteria

F8 (81403,81406,81407) and/or F9 (81238,81479) variant analysis to confirm or establish a diagnosis of hemophilia A or B is considered medically necessary when:

Clinical features: Member has any clinical feature consistent with hemophilia (examples: hemarthrosis, deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma/intracranial bleeding, prolonged oozing after procedures, prolonged or delayed bleeding after surgery/trauma, unexplained GI bleeding or hematuria, heavy/prolonged menses especially at menarche, prolonged recurrent bilateral epistaxis, excessive bruising with hematomas).

Laboratory features: OR member has laboratory features: normal platelet count AND prolonged activated partial thromboplastin time (aPTT) AND normal prothrombin time (PT).

Hemophilia A/B - Investigational

Investigational: F8 and F9 variant analysis is investigational for all other indications not meeting the above clinical or laboratory criteria.

VWF Variant Analysis - Investigational

VWF Variant Analysis

VWF variant analysis (81408, 81479) to confirm or establish a diagnosis of von Willebrand disease is considered investigational; diagnosis can be achieved by standard laboratory and biochemical testing per CDC guidance.

Other Rare Hematologic Conditions - Medically Necessary When Clinically Consistent

Other Covered Hematologic Conditions (noncancerous)

Rarity-based coverage: Genetic testing to establish or confirm diagnosis for listed rare hematologic conditions is considered medically necessary when the member demonstrates clinical features consistent with the specific disorder (list is not comprehensive).

G6PD Variant Analysis - Investigational

G6PD variant analysis

G6PD variant analysis (81247, 81248, 81249, 81479) to confirm or establish a diagnosis of G6PD deficiency is considered investigational; diagnosis can be achieved by quantitative spectrophotometric analysis or a rapid fluorescent spot test.

Guideline-supported testing indications and clinical rationale

Guideline-derived scenarios and diagnostic indications referenced for thrombophilia, hemoglobinopathies, hemophilia, G6PD deficiency, and VWD testing.

Thrombophilia testing scenarios from ASH: ASH 2023 provides conditional recommendations for testing in: VTE associated with nonsurgical major transient or hormonal risk factors; cerebral or splanchnic venous thrombosis when anticoagulation would otherwise be discontinued; individuals with a family history (first or second degree) of VTE when considering thromboprophylaxis for minor provoking factors and guidance on COCs/hormone therapy; pregnant women with a family history (first or second degree) of high-risk thrombophilia; patients with cancer receiving systemic therapy at low or intermediate risk of thrombosis and with family history of VTE.

ACOG position on thrombophilia testing in pregnancy: ACOG Practice Bulletin 197 (2018) states screening for inherited thrombophilias is not recommended for women with history of fetal loss or adverse pregnancy outcomes because evidence does not support antepartum prophylaxis effectiveness.

Hemoglobinopathy molecular testing role: GeneReviews and literature note molecular analyses are critical when basic hematology and hemoglobin analyses are inconclusive and are indispensable for prevention programs, genetic counseling, reproductive risk calculation, prenatal and preimplantation genetic diagnosis, and may help predict clinical severity.

Hemophilia clinical and lab features: Clinical symptoms (hemarthrosis, deep muscle hematomas, intracranial bleeding, prolonged bleeding after procedures, heavy menses, recurrent epistaxis, excessive bruising) and lab findings (normal platelet count, prolonged aPTT, normal PT) support consideration of F8/F9 variant analysis per GeneReviews guidance.

G6PD testing pathway: Clinical guidance (AAFP, UpToDate) emphasizes enzyme activity testing (fluorescent spot test, quantitative spectrophotometric analysis) as primary; molecular confirmatory testing is available but not routinely used and may be less useful for some ancestries.

VWD diagnostic testing role: CDC guidance for VWD diagnosis recommends laboratory tests to aid diagnosis and does not include routine genetic testing for VWD.

VWF variant analysis (CPTs 81408 and 81479) is listed as investigational because the policy states that a diagnosis of von Willebrand disease can be achieved by standard laboratory and biochemical testing rather than by routine molecular testing.

Professional society guidance does not support routine population genetic screening for thrombophilia. The policy cites the ASH 2023 recommendation against thrombophilia testing in the general population before initiating combined oral contraceptives and the ACOG Practice Bulletin (2018) advising that screening for inherited thrombophilias is not recommended for women with fetal loss or adverse pregnancy outcomes.

The policy identifies specific gene or variant analyses as investigational when ordered outside the explicit clinical criteria: F5/F2 testing is investigational for indications such as fetal loss or adverse pregnancy outcomes; HBA1/HBA2 and HBB variant analyses are investigational for indications that do not meet hematologic screening triggers; F8/F9 testing is investigational when clinical or laboratory features of hemophilia are absent; and G6PD and VWF variant analyses are investigational because enzymatic or standard laboratory testing typically establishes diagnosis.

Genetic testing is generally not the first-line diagnostic approach for von Willebrand disease or G6PD deficiency. The policy notes that VWF and G6PD diagnoses are usually achieved with standard laboratory or enzymatic assays (e.g., quantitative spectrophotometric analysis or fluorescent spot test for G6PD) and cites guideline positions discouraging routine thrombophilia screening in the general population prior to combined oral contraceptive use.

Covered Indications and Targeted Testing

Confirmation/establishment of diagnosis for specific noncancerous hematologic disorders when clinical/lab criteria are met

Confirmation/establishment of diagnosis for specific noncancerous hematologic disorders (inherited thrombophilia, hemoglobinopathies, hemophilia, other listed rare disorders) when clinical/lab criteria are met.

Covered Indications: Targeted single-gene or variant analysis (e.g., F5, F2, HBA1/HBA2, HBB, F8, F9) to confirm or establish diagnosis is considered medically necessary when the condition-specific clinical or laboratory criteria in this policy are satisfied.

Targeted molecular or variant analysis when results will influence management or reproductive decision-making; includes ASH-specified scenarios

Targeted molecular or variant analysis when test results will influence clinical management, reproductive decision-making, or when standard hematology and hemoglobin analyses are inconclusive.

Influence management or reproductive decisions: Perform targeted molecular or variant analysis when results will influence clinical management (including anticoagulation duration or thromboprophylaxis decisions), reproductive decision-making, prenatal or preimplantation planning, or when standard hematology and hemoglobin analyses are inconclusive.

ASH-specified thrombophilia scenarios: Includes Factor V Leiden and Prothrombin (F2) testing in scenarios aligned with ASH 2023 guidance (VTE with nonsurgical major transient or hormonal risk factors; cerebral or splanchnic venous thrombosis when anticoagulation would otherwise be discontinued; family-history scenarios that affect prophylaxis or hormonal therapy decisions; pregnant women with family history of high-risk thrombophilia; selected cancer patients with family history).

Eligibility and Test Ordering Requirements

Eligibility for thrombophilia, hemoglobinopathy, hemophilia, and other targeted genetic testing depends on meeting the specific clinical and laboratory criteria described elsewhere in this policy. For inherited thrombophilia (F5/F2), medically necessary scenarios include documented VTE with provocation by nonsurgical major transient risk factors, pregnancy/postpartum, or combined oral contraceptive use; planning to discontinue anticoagulation after VTE in the setting of cerebral or splanchnic venous thrombosis; certain family-history configurations with minor provoking risk factors; pregnancy planning when relatives have high-risk genotypes; and some cancer treatment contexts.

Family history requirements are explicitly incorporated into eligibility determinations. Coverage considerations reference first- or second-degree relatives in scenarios such as a relative known to be homozygous for factor V Leiden, a compound heterozygote for F5 and F2, or multiple relatives with VTE when that information would affect thromboprophylaxis or reproductive planning.

Prior diagnostic testing is required or expected before ordering molecular analyses for some conditions. For hemoglobinopathies, molecular testing is considered medically necessary when hematologic screening (examples: MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) is positive or inconclusive; molecular tests are otherwise investigational. Similarly, for conditions like VWD and G6PD deficiency, enzymatic and standard laboratory tests should generally be performed first.

Eligibility also depends on whether results will influence management, counseling, or reproductive decision-making. The policy emphasizes that targeted molecular or variant analysis is appropriate when test results will affect clinical management (for example, anticoagulation decisions), are required for genetic counseling or prenatal/preimplantation planning, or when standard hematology testing is inconclusive.

Not Covered / Investigational Indications

Not covered examples listed in the policy include F5/F2 testing for fetal loss or adverse pregnancy outcomes, VWF variant analysis to diagnose von Willebrand disease, and G6PD variant analysis for routine diagnostic evaluation; these are designated investigational or not covered because standard biochemical or enzymatic testing can establish the diagnosis in those contexts.

Routine or population genetic screening is not supported in certain contexts. The policy cites ASH 2023 and ACOG guidance that recommend against routine thrombophilia screening in the general population prior to initiating combined oral contraceptives and discourage screening for inherited thrombophilias solely for adverse pregnancy outcomes.

Coding Examples and CPT Groups

Inherited Thrombophilia - examplesCPTCovered

81241	Factor V (Leiden) Mutation Analysis
81240	Prothrombin (Factor II) 20210G>A Mutation Analysis

Inherited Thrombophilia - examples (duplicate_ref)CPTCovered

81241	Factor V (Leiden) Mutation Analysis
81240	Prothrombin (Factor II) 20210G>A Mutation Analysis

Hemoglobinopathies - example CPT codesCPTCovered

81259	HBA1/HBA2 variant analysis (example)
81269	HBA1/HBA2 variant analysis (example)
81257	Alpha-Globin Common Mutation Analysis (example)
81364	Beta Globin (HBB) Sequencing
81363	Beta Globin Gene Dosage Analysis

Hemophilia A and B - example CPT codesCPTCovered

81403	F8 variant analysis / Hemophilia A genetic analysis
81406	F8 variant analysis
81407	F8 variant analysis
81238	F9 variant analysis / Hemophilia B genetic analysis

G6PD and VWF - example CPT codesCPT

81247	G6PD variant analysis - targeted variant
81248	G6PD full gene sequencing
81249	G6PD variant analysis
81479	Unlisted molecular pathology procedure
81408	VWF variant analysis / von Willebrand gene sequencing

Other covered hematologic condition CPT examplesCPT

81400	Molecular pathology procedure (grouped examples)
81401	Molecular pathology procedure
81402	Molecular pathology procedure
81404	Molecular pathology procedure
81405	Molecular pathology procedure

Provider Actions, Authorization, and Documentation

Prior Authorization

Check Concert Platform for registered tests and authorizations

Check the Concert Platform for the specific registered test and any authorization requirements prior to ordering; CPT code listings in this policy are informational and do not guarantee coverage.

See Concert Platform for comprehensive list of registered tests and laboratories.
Inclusion of CPT codes in this policy is informational only — inclusion or exclusion does not guarantee coverage.

Prior Authorization

Verify prior authorization and member benefit rules with the plan

Coverage decisions and whether prior authorization is required are governed by plan-level administrative policies and procedures; verify member benefits and plan-level prior authorization rules before ordering.

This policy is a guide to medical necessity and does not guarantee payment or authorize services.
Coverage decisions and administration of benefits are subject to all terms, conditions, exclusions, and limitations of the coverage documents and applicable plan procedures.

Billing Rule

Confirm coding and registered test match before submission

Reference applicable CPT/ICD codes when submitting requests and ensure the test ordered matches a Concert Platform registered test listing.

Codes in this policy are examples for informational purposes only; providers should use up-to-date professional coding guidance.
Confirm the specific registered test and laboratory on the Concert Platform to align ordering and claims submission.

Documentation Required

Document clinical indication and cite applicable policy criteria

Document clinical indication and link to the specific policy criteria that justify medical necessity when requesting testing (eg, cite which covered indication or family-history scenario applies).

Include relevant clinical details (VTE history, family history, prior hematology/enzymatic test results) to demonstrate criteria are met.
Support the request with CPT/ICD codes and Concert Platform test identifiers.

Documentation Required

Support clinical criteria with CPT/ICD and Concert Platform identifiers

Support requests with the specific CPT/ICD codes and Concert Platform registered test name/ID; include hematology or enzymatic test results when required by the criteria (for example, prior hemoglobinopathy screening or G6PD enzymatic assay results).

Reference CPT examples in the policy (e.g., 81241, 81240 for F5/F2) but verify current coding prior to submission.
Attach prior screening or diagnostic test results when policy criteria require prior hematology or enzymatic testing.

Documentation Required

Use professional judgment and align records with policy criteria

Apply professional medical judgment in determining whether testing is appropriate and ensure documentation in the medical record aligns with the coverage criteria; the policy is a guide, not a substitute for clinical decision-making.

Providers are expected to exercise independent professional judgment and are responsible for the medical advice and treatment of members.
Ensure documentation demonstrates how the case meets the policy’s specified clinical or laboratory criteria for coverage.

Denial Risk

Investigational indications (e.g., F5/F2 for pregnancy loss) may be denied

Tests that the policy lists as investigational for certain indications (for example, F5/F2 testing for fetal loss or adverse pregnancy outcomes) may be denied if submitted for those indications.

F5 and F2 variant analysis is investigational for indications including fetal loss or adverse pregnancy outcomes (eg, placental abruption, fetal growth restriction, preeclampsia).
Coverage and payment may be denied when testing is for investigational or not medically necessary indications per policy.

Note

Coverage decisions governed by plan documents and applicable regulations

Coverage determinations and benefit administration remain subject to all terms, conditions, exclusions, and limitations of the member’s coverage documents and applicable legal/regulatory requirements; confirm any conflicts with Medicaid/Medicare guidance take precedence.

This policy is a guide to medical necessity and does not constitute a contract or guarantee of payment.
State Medicaid provisions or Medicare NCDs/LCDs supersede when applicable.

Documentation Required

Document use of molecular results for genetic counseling and reproductive risk

When molecular analysis is used for reproductive planning (prenatal or preimplantation) or genetic counseling, include documentation that results will inform counseling or reproductive risk calculation; these analyses are indispensable for those purposes per GeneReviews guidance.

Include counseling notes stating how test results will affect reproductive decision-making or prenatal/preimplantation planning.
Cite that molecular analyses are required for genetic counseling and offspring risk calculation when applicable.

Note

Ordering provider qualifications — exercise professional judgment

The policy does not specify ordering provider qualifications; ordering providers must exercise professional medical judgment and follow plan-level procedures when ordering tests.

Providers are expected to be appropriately licensed and to exercise independent judgment.
Follow any additional Health Plan-level administrative policies or state/federal requirements regarding ordering providers.

Background and Rationale

Background: Genetic and molecular testing can confirm diagnoses for selected noncancerous hematologic disorders and may influence management, avoid further diagnostic workup, or be essential for genetic counseling and reproductive planning. The policy integrates guideline recommendations (e.g., ASH, GeneReviews) and emphasizes that molecular analyses are most valuable when clinical or laboratory findings indicate a genetic etiology or when results will affect treatment or counseling.

Definitions

Close relatives — first-, second-, third-degree definitions

First-degree relativesParents, siblings, and children.

Second-degree relativesGrandparents, aunts, uncles, nieces, nephews, grandchildren, and half-siblings.

Third-degree relativesGreat grandparents, great aunts, great uncles, great grandchildren, and first cousins.

Nonsurgical transient risk factors — definition

Hospital bed confinementConfinement to bed in the hospital with acute illness for at least 3 days.

Short hospital admission plus other factorsAdmission of less than 3 days with acute illness combined with other minor transient factors.

Non-hospital bed confinementConfinement to bed outside of hospital for at least 3 days.

Leg injury with decreased mobilityLeg injury associated with decreased mobility for at least 3 days.

Close relatives (alternate chunk repetition)

First-degree relativesParents, siblings, and children.

Second-degree relativesGrandparents, aunts, uncles, nieces, nephews, grandchildren, and half-siblings.

Third-degree relativesGreat grandparents, great aunts, great uncles, great grandchildren, and first cousins.

Nonsurgical transient risk factors (alternate chunk repetition)

Hospital bed confinement (≥3 days)Confinement to bed in the hospital with acute illness for at least 3 days.

Combination of minor transient factorsAdmission <3 days with acute illness combined with other minor transient risk factors.

Out-of-hospital bed confinement (≥3 days)Confinement to bed outside of hospital for at least 3 days.

Leg injury with reduced mobility (≥3 days)Leg injury associated with decreased mobility for at least 3 days.

Revision History

2024-11-20policy reviewLatest

Policy reviewed with last review date recorded; next review scheduled for 2025-11-20 per document history.