ModifiedCommunity Health Plan WashingtonPolicy N/A

Genetic Testing: Hematologic (Noncancerous) Conditions — Variant and Molecular Analysis

Defines medical necessity criteria and coding guidance for genetic and molecular testing to diagnose or confirm inherited noncancerous hematologic disorders for members of Community Health Plan Washington.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGenetic Testing: Hematologic (Noncancerous) Conditions — Variant and Molecular Analysis

Policy CodePolicy N/A

Change TypeRevised references and criteria (material)

Effective DateN/A

Next Review DateNov 20, 2025

Key ActionObtain prior authorization per payer processes and document medical necessity per policy criteria when ordering genetic testing.

SourceLink

POLICY UPDATE CHANGES

Updated Factor V Leiden (F5) and Prothrombin (F2) variant analysis references to the 2023 ASH guidelines and revised related criteria language.

Hemoglobinopathies criteria updated to explicitly add 'variant analysis' (HBA1/HBA2 and/or HBB).

G6PD Variant Analysis section streamlined and molecular testing language added/adjusted.

multiplehematologic conditions listed

5+conditions covered

2023ASH guideline

V1.2025

Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.

Medical Necessity and Investigational Criteria

HBA1/HBA2 and HBB Variant Analysis — indications and reproductive counseling contexts

HBA1/HBA2 and/or HBB Variant Analysis

ALL of the following

HBA1/HBA2 variant analysis (81257, 81259, 81269) and/or HBB variant analysis (81363, 81364) to confirm or establish a diagnosis of a hemoglobinopathy (alpha-thalassemia, beta-thalassemia, or sickle cell disease) is considered medically necessary when ANY of the following hematologic screening contexts are present:
ONE of
- The member/enrollee's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or dichlorophenol indophenol (DCIP)) are positive for a hemoglobinopathy.
- The member/enrollee's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or dichlorophenol indophenol (DCIP)) do not conclusively diagnose or rule out a hemoglobinopathy (molecular testing used to resolve equivocal or inconclusive laboratory/hemoglobin analysis).

ALL of the following

HBA1/HBA2 variant analysis (81257, 81259, 81269) and/or HBB variant analysis (81363, 81364) to confirm or establish a diagnosis of a hemoglobinopathy is considered investigational for all other indications (including population screening without abnormal or inconclusive hematologic testing, or testing solely for ancestry without clinical or laboratory indication).

Factor VIII (F8) and Factor IX (F9) Variant Analysis — indications

Factor VIII (F8) and Factor IX (F9) Variant Analysis for Hemophilia A and B

ALL of the following

F8 variant analysis (81403, 81406, 81407) and/or F9 variant analysis (81238, 81479) to confirm or establish a diagnosis of hemophilia A or B is considered medically necessary when ALL of the following clinical or laboratory features support the diagnosis:
Clinical features (ANY of)
- Hemarthrosis (especially with mild or no antecedent trauma).
- Deep-muscle hematomas.
- Intracranial bleeding in the absence of major trauma.

When Testing Is Covered

Example CPT Codes and Coding Guidance

Inherited Thrombophilia example CPTsCPT

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

Hemoglobinopathy CPTsCPT

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

Hemophilia CPTsCPT

81403	F8 variant analysis (example)
81406	F8 variant analysis (example)
81407	F8 variant analysis (example)
81238	F9 variant analysis (example)

VWF and G6PD CPTsCPT

81247	G6PD targeted variant analysis (example)
81248	G6PD full gene sequencing (example)
81249	G6PD deletion/duplication (example)
81479	Unlisted molecular pathology procedure (used in examples)
81408	VWF variant analysis (example)

Other covered hematologic condition CPT group examplesCPT

81400	Sequence analysis (example group listed)
81401	Deletion/duplication analysis (example group listed)
81402	Targeted sequence analysis (example group listed)
81404	Expression analysis (example group listed)
81405	Genomic assay (example group listed)

Ordering, Authorization, and Documentation Requirements

Documentation Required

Coverage document compliance

Coverage decisions are subject to the member’s coverage document and plan terms, including exclusions, limitations, and benefit maximums. This clinical policy provides medical necessity guidance to assist in coverage determinations but is not a guarantee of payment. Providers must verify member eligibility, benefits, and any plan-specific administrative requirements prior to ordering tests.

Coverage decisions subject to evidence of coverage, contract terms, and state/federal requirements
When state Medicaid or Medicare provisions differ, applicable program rules take precedence

Billing Rule

Coding and clinical documentation

Reference current CPT®, ICD-10, and other coding guidance when submitting claims. Codes included in this policy are examples for informational purposes and are not exhaustive. Providers should use the most up-to-date coding manuals and payer billing guidance. See the Concert Platform for a comprehensive list of registered tests and associated codes.

Member and Test Eligibility Notes

No top-level eligibility nodes are specified in this policy for familial or other prerequisite requirements. Eligibility for testing is determined by whether the member’s clinical presentation and prior diagnostic testing meet the condition-specific criteria in this document.

There are no additional standalone eligibility requirements recorded at the policy top level. Refer to each condition-specific section for the clinical and laboratory features that must be met to qualify for genetic testing.

This policy does not list separate prior-testing or family-history top-level nodes outside the condition sections. Required prior testing and family-history details (for example, hematologic screening results for hemoglobinopathies or specified laboratory abnormalities for hemophilia) appear within individual test criteria.

No additional eligibility placeholders are present. Clinicians should consult the condition-specific criteria—such as VTE history for thrombophilia, hematologic screening for hemoglobinopathies, or bleeding and coagulation test results for hemophilia—to determine member eligibility for genetic testing.

Services and Testing Not Covered

Tests explicitly identified as not covered for routine clinical use include molecular variant analyses that the policy designates investigational. Examples called out in the policy are VWF variant analysis (81408, 81479) and G6PD variant analysis (81247, 81248, 81249, 81479), which the policy lists as investigational because standard laboratory/biochemical or enzyme assays typically establish those diagnoses.

In addition, variant analyses for other hematologic genes when requested for indications not listed in the coverage criteria (for example, F5/F2, HBA/HBB, F8/F9 for non-specified scenarios) are not supported and may be denied as investigational.

Routine genetic testing for thrombophilia in the general population prior to initiating combined oral contraceptives is not covered; ASH strongly recommends against this practice. The policy similarly does not support routine molecular testing in place of standard functional or biochemical diagnostic tests for G6PD deficiency or von Willebrand disease.

Providers should follow the policy’s condition-specific clinical indications and existing society guidance (e.g., ASH, CDC, AAFP) rather than ordering broad population screening or routine molecular testing outside those scenarios.

Key Definitions and Terms

Close relatives / degrees

Definition summaryClose 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, great aunts, great uncles, great grandchildren, and first cousins.

Nonsurgical transient risk factors

Definition summaryNonsurgical transient risk factors are temporary, nonoperative causes of VTE risk related to periods of reduced mobility or acute illness.

Background and Rationale

Genetic testing can be helpful to confirm diagnoses of inherited noncancerous hematologic disorders and to direct management or avoid unnecessary additional workup. The policy covers genetic testing for multiple conditions—including inherited thrombophilia (F5/F2), hemoglobinopathies (HBA1/HBA2 and HBB), hemophilia (F8/F9), and certain rare inherited hematologic disorders—when specific clinical or laboratory criteria are met.

For thrombophilia, the policy follows ASH 2023 guidance by specifying clinical contexts where F5 and F2 variant analysis may inform anticoagulation decisions or reproductive/hormonal management. For hemoglobinopathies, molecular testing is indicated when hematologic screening is positive or inconclusive and is used for genetic counseling and reproductive risk assessment. For hemophilia, variant analysis is indicated for characteristic bleeding presentations or when coagulation testing shows prolonged aPTT with normal PT and normal platelet count. Conversely, genetic testing for VWD and G6PD deficiency is generally not the primary diagnostic approach because validated laboratory or enzyme tests typically suffice.

Policy Summary

PayerCommunity Health Plan Washington

PolicyGenetic Testing: Hematologic (Noncancerous) Conditions — Variant and Molecular Analysis

Policy CodePolicy N/A

Change TypeRevised references and criteria (material)

Effective DateN/A

Next Review DateNov 20, 2025

Key ActionObtain prior authorization per payer processes and document medical necessity per policy criteria when ordering genetic testing.

SourceLink

On This Page

Neonatal cephalohematoma or intracranial bleeding.

Prolonged oozing or renewed bleeding after initial bleeding stops following tooth extractions, mouth injury, or circumcision.

Prolonged, delayed bleeding, or poor wound healing following surgery or trauma.

Unexplained GI bleeding or hematuria.

Heavy or prolonged menstrual bleeding (especially with onset at menarche).

Prolonged nosebleeds, especially recurrent and bilateral.

Excessive bruising (especially with firm, subcutaneous hematomas).

Laboratory features (ALL of)

Normal platelet count.
Prolonged activated partial thromboplastin time (aPTT).
Normal prothrombin time (PT).

ALL of the following

F8 variant analysis (81403, 81406, 81407) and/or F9 variant analysis (81238, 81479) to confirm or establish a diagnosis of hemophilia A or B is considered investigational for all other indications (including testing in absence of compatible clinical or laboratory features, or routine population screening).

CPT codes and descriptions are copyrighted by the American Medical Association; inclusion here is informational only
Providers should confirm the correct CPT/ICD codes for the ordered test and submit documentation that supports the code(s) billed

Documentation Required

Medical necessity documentation

Providers are responsible for documenting medical necessity in the medical record and for ensuring submitted documentation supports the testing indication per this policy. Clinical records should clearly state the indication, relevant clinical history, prior testing and results, and how the result will impact patient management. Tests deemed investigational or not meeting the policy criteria may be denied.

Maintain documentation of signs, symptoms, family history, and laboratory screening results that meet policy criteria
Document clinical decision-making that demonstrates how test results will affect treatment or management
Be aware that investigational indications listed in the policy are not covered and may be denied

Prior Authorization

Prior authorization and test registration

Use payer-specific prior authorization and test registration processes when required (for example, the Concert Platform where applicable). Follow Health Plan administrative procedures for prior authorization submission, including any required clinical rationale and supporting records. Lack of required authorization or registration may result in claim denial.

Prior authorization may be required per administrative procedures — follow Health Plan processes
Register tests in the Concert Platform when applicable and attach required clinical documentation

Note

Provider responsibilities and ordering

Providers are expected to exercise professional judgment when ordering genetic and molecular testing. There are no specific ordering provider specialty restrictions in this policy; however, the ordering clinician must ensure the test is appropriate for the member and document rationale. Providers remain responsible for compliance with all plan policies and billing rules.

No explicit ordering provider specialty restrictions specified — provider professional judgment required
Providers remain responsible for the accuracy of orders, documentation, and coding submissions

In-hospital bed confinement

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

Short hospital admissions or out-of-hospital bed confinementCombination of minor transient risk factors such as admission of less than 3 days with acute illness or confinement 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 — examples by degree

First-degree examplesParents, siblings, children.

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

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

Nonsurgical transient risk factors — specific examples

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

Short admissions combined with other factorsAdmission of less than 3 days with acute illness combined with other minor transient risk factors.

Out-of-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.