CurrentHealth NetPolicy N/A

CONCERT Genetic Testing: Hematologic Conditions (Noncancerous)

Policy governing medical necessity and coverage criteria for genetic and molecular testing to diagnose or confirm noncancerous hematologic conditions for Health Net members; applies to clinicians ordering such tests.

Policy Summary

PayerHealth Net

PolicyCONCERT Genetic Testing: Hematologic Conditions (Noncancerous)

Policy CodePolicy N/A

Change TypeNo material changes

Effective Date

Next Review DateNov 20, 2025

Key ActionObtain and document clinical features or laboratory screening results that support medical necessity before ordering genetic testing.

SourceLink

POLICY UPDATE CHANGES

No material clinical or coverage changes in this revision.

multipleCPT codes referenced

ASH 2023Guideline cited

G6PD,VWFInvestigational tests

multipleGeneReviews cited

Coverage Criteria for Genetic and Molecular Testing

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A: Personal VTE history scenarios: Member had a venous thromboembolism (VTE) that is provoked by a nonsurgical major transient risk factor OR provoked by pregnancy or postpartum OR provoked by combination oral contraceptive use

From policy list of provoked VTE scenarios

B: Planning to discontinue anticoagulation after VTE: Member is planning to discontinue anticoagulation after venous thromboembolism (VTE) AND has history of cerebral venous thrombosis OR splanchnic venous thrombosis

Policy requires planning to discontinue anticoagulation plus specific thrombosis history

C: Minor provoking risk factor plus family history: 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

Family history qualifiers specified

D: Female planning pregnancy with family history: Female planning a pregnancy AND has a first- or second-degree relative known to be homozygous for factor V Leiden OR a first- or second-degree relative known to be a compound heterozygote for factor V Leiden and prothrombin mutation

Specific high-risk family history required

E: Systemic cancer treatment without personal VTE: Member is receiving systemic cancer treatment AND does not have a personal history of VTE AND has a first-degree relative with VTE

Coverage when cancer treatment and family history present

HBA1/HBA2 and HBB variant analysis for hemoglobinopathies

HBA1/HBA2 (81257, 81259, 81269) and/or HBB (81363, 81364) variant analysis is considered medically necessary when:

A: Positive hematologic screening: Member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) are positive for a hemoglobinopathy

Screening tests listed as examples

B: Inconclusive screening: Member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) do not conclusively diagnose or rule out a hemoglobinopathy

Policy allows testing when screening is inconclusive

F8 and F9 variant analysis for Hemophilia A and B

F8 (81403, 81406, 81407) and/or F9 (81238) variant analysis to confirm diagnosis is considered medically necessary when:

A: Clinical features: Member has any of the listed clinical features of hemophilia (eg, hemarthrosis, deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma or intracranial bleeding, prolonged oozing after procedures, prolonged/delayed bleeding or poor wound healing after surgery/trauma, unexplained GI bleeding or hematuria, heavy/prolonged menstrual bleeding especially at menarche, recurrent bilateral nosebleeds, excessive bruising)

Full list provided in policy and supported by GeneReviews

B: Laboratory features: Member has normal platelet count AND prolonged activated partial thromboplastin time (aPTT) AND normal prothrombin time (PT)

Laboratory triad required

Other covered hematologic conditions (noncancerous)

Genetic testing to establish or confirm diagnosis of listed rare hematologic conditions is considered medically necessary when the member demonstrates clinical features consistent with the disorder.

Covered conditions list: Includes atypical hemolytic-uremic syndrome (aHUS), complete plasminogen activator inhibitor deficiency, Diamond-Blackfan anemia, hereditary spherocytosis, Factor VII/X/XI/XII deficiencies and others; testing is appropriate when disorder-specific clinical features are present

List is not comprehensive; clinical features referenced to GeneReviews, OMIM, Genetics Home Reference or other scholarly sources

Genetic testing is not covered when used outside the specific medically necessary indications listed elsewhere in this policy. Specifically, Factor V (F5) and Prothrombin (F2) variant analysis performed for indications other than those described (for example, evaluation of fetal loss or adverse pregnancy outcomes such as placental abruption, fetal growth restriction, or preeclampsia) is considered investigational and would not meet medical necessity. Likewise, G6PD variant analysis and VWF (von Willebrand factor) variant analysis for diagnostic purposes are considered investigational because standard biochemical and laboratory testing can establish the diagnosis in routine clinical practice.

For some bleeding and hemolytic disorders, professional guidance recommends biochemical or functional laboratory testing as the first-line diagnostic approach rather than routine genetic testing. For example, diagnosis of G6PD deficiency is typically achieved with quantitative spectrophotometric assays or rapid fluorescent spot tests, and confirmation by molecular methods is not routinely required. Similarly, diagnosis of von Willebrand disease (VWD) is guided by standard laboratory and biochemical testing per CDC guidance; genetic testing is not part of routine initial diagnostic workup for these conditions.

Eligibility Requirements

Testing eligibility for inherited thrombophilia (F5/F2) is limited to specific clinical scenarios defined in the policy. Eligible members include those with qualifying personal history of venous thromboembolism (VTE) — such as VTE provoked by nonsurgical major transient risk factors, pregnancy/postpartum, or combination oral contraceptive use — and members meeting specified family-history or clinical complexity criteria (for example, planning to discontinue anticoagulation after VTE with prior cerebral or splanchnic thrombosis). These scenario-based requirements align with ASH 2023 guidance referenced in the policy.

For hemoglobinopathy testing (HBA1/HBA2 and HBB), eligibility is based on hematologic screening results. Genetic analysis is considered medically necessary when screening tests (examples listed in the policy: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) are positive for a hemoglobinopathy or when those screening results are inconclusive and do not clearly diagnose or exclude an alpha- or beta-thalassemia or sickle cell disease.

Eligibility for F8 and F9 variant analysis (Hemophilia A and B) requires disorder-specific clinical or laboratory findings. Clinical features that support testing include manifestations such as hemarthrosis, deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma, prolonged or recurrent bleeding after procedures, unexplained GI bleeding or hematuria, heavy or early-onset menstrual bleeding, recurrent bilateral epistaxis, and excessive bruising. Laboratory eligibility requires the triad of normal platelet count, prolonged aPTT, and normal PT to be present as described in the policy.

Genetic testing for other rare, noncancerous hematologic conditions is eligible when the member demonstrates clinical features consistent with the specific disorder. The policy lists conditions with known genetic associations (for example atypical HUS, Diamond-Blackfan anemia, hereditary spherocytosis, various factor deficiencies) and indicates molecular testing is medically necessary when disorder-specific clinical presentation or evaluation supports the diagnosis.

Not Covered / Investigational

Certain genetic tests are explicitly listed as not covered (investigational) for common alternative uses. Notable examples include: F5/F2 variant analysis when ordered to investigate fetal loss or adverse pregnancy outcomes; G6PD variant analysis when used instead of recommended enzymatic/functional assays for diagnosis; and VWF variant analysis when sought in place of established laboratory/biochemical testing for von Willebrand disease.

Professional guidance does not support routine genetic testing as the initial diagnostic step for G6PD deficiency or von Willebrand disease. Sources cited in the policy (eg, American Academy of Family Physicians and UpToDate for G6PD; CDC guidance for VWD) recommend biochemical or functional testing as first-line diagnostic modalities, with molecular testing reserved for confirmatory or select clinical situations rather than routine initial diagnosis.

Coding References

Referenced CPT Codes (examples)CPT

81241	F5 (Factor V) variant analysis (example for Factor V Leiden)
81240	F2 (Prothrombin) variant analysis (example)
81257	HBA1/HBA2 variant analysis (example)
81259	HBA1/HBA2 variant analysis (example)
81269	HBA1/HBA2 variant analysis (example)
81363	HBB gene dosage analysis (example)
81364	HBB sequencing (example)
81403	F8 variant analysis (example)
81406	F8 variant analysis (example)
81407	F8 variant analysis (example)

1–10 of 16

1/2

Referenced ICD-10 Codes (examples)ICD-10

D68.51	ICD-10 example for inherited thrombophilia / Factor V related
D68.52	ICD-10 example for prothrombin mutation related
D56.0	ICD-10 examples for thalassemia
D57	ICD-10 example for sickle cell disease
D66	ICD-10 example for Hemophilia A
D67	ICD-10 example for Hemophilia B
D55.0	ICD-10 example for G6PD deficiency
D68.0	ICD-10 example for von Willebrand disease

Provider Actions and Administrative Notes

Prior Authorization

Prior Authorization Guidance

Prior authorization may be required for certain referenced CPT-coded genetic and molecular tests. Providers should verify prior authorization requirements with the member's Health Net plan or refer to the plan's prior authorization portal before ordering tests.

Prior authorization requirements vary by plan and product — check member-specific benefits.
Referenced CPT codes (examples in policy) may require prior authorization when submitted for reimbursement.

Denial Risk

Investigational Indications — Denial Risk

Genetic and molecular tests used for indications not listed as medically necessary in this policy are considered investigational; such uses may be denied as not medically necessary.

Investigational indications include any use not explicitly supported by the 'medically necessary' criteria within this policy.
Examples from the policy (e.g., certain G6PD, VWF analyses) are listed as investigational when used for other indications.

Note

General Coverage Caveat

Coverage decisions are subject to the terms, conditions, exclusions, and limitations of the member's coverage documents and to applicable state and federal requirements. This policy is a guide to medical necessity and does not guarantee payment.

Member-specific documents (e.g., evidence of coverage, certificate of coverage) govern final coverage.
For Medicaid members, state Medicaid provisions supersede conflicting policy provisions.
For Medicare members, applicable NCDs, LCDs, and Medicare Coverage Articles must be consulted.

Documentation Required

Support Clinical and Laboratory Evidence

Providers should support genetic test orders with relevant clinical and laboratory evidence that documents medical necessity consistent with the criteria in this policy.

Document clinical features, family history, and laboratory screening results (e.g., MCV, MCH, CBC, hemoglobin electrophoresis, aPTT, PT) as applicable to the condition tested.
Include pertinent details such as type and timing of prior VTE, pregnancy status, anticoagulation plans, and family member genotypes when relevant.
Attach lab reports, imaging, and consult notes that substantiate the indication for testing.

Documentation Required

Documentation and Provider Responsibility

Providers are responsible for documenting medical necessity, obtaining any required prior authorizations, and submitting accurate coding and supporting documentation when requesting coverage for genetic tests.

Ensure CPT and ICD-10 codes reported reflect the clinical indication and are supported by the medical record.
Maintain copies of authorization approvals and clinical documentation to support claims.

Background

Genetic testing for noncancerous hematologic conditions can confirm diagnoses that directly affect management and may avoid additional diagnostic procedures. This policy focuses on genetic testing to diagnose or confirm inherited thrombophilias, hemoglobinopathies, hemophilias, and other rare hematologic disorders, and it references evidence-based guidance (for example ASH 2023 and GeneReviews) to define appropriate testing scenarios. The background emphasizes that testing is most appropriate when clinical features or laboratory screening results support the suspected diagnosis and when molecular analysis will affect care, reproductive planning, or counseling.

Definitions

Close relatives (degree descriptions)

DefinitionClose relatives include first-, second-, and third-degree blood relatives on the same side of the family.

First-degree relativesParents, siblings, and children.

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

Third-degree relativesGreat-grandparents and first cousins (also lists great‑great relatives and other extended relations).

Nonsurgical transient risk factors

DefinitionNonsurgical transient risk factors are temporary, nonoperative conditions that increase VTE risk.

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

Short admission or outpatient bed confinementAdmission of less than 3 days with acute illness or confinement to bed outside of the hospital for at least 3 days.

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

Close relatives (alternate)

DefinitionClose relatives include first-, second-, and third-degree blood relatives on the same side of the family.

First-degree relativesParents, siblings, and children.

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

Third-degree relativesGreat-grandparents and first cousins (also references extended relatives).

Nonsurgical transient risk factors (alternate)

DefinitionNonsurgical transient risk factors include temporary nonoperative conditions that transiently raise VTE risk.

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

Outpatient/short admissionAdmission of less than 3 days with acute illness or confinement to bed outside the hospital for at least 3 days.

Reduced mobility due to leg injuryLeg injury with decreased mobility for at least 3 days.

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