ModifiedCommunity Health Plan WashingtonPolicy N/A

Concert Genetic Testing Hematology

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Defines medical necessity criteria and coding implications for genetic tests used to diagnose or confirm non-cancerous hematologic disorders (e.g., thrombophilia, hemoglobinopathies, hemophilia, Fanconi anemia) for members of the payer plan.

Policy Summary

PayerCommunity Health Plan Washington

PolicyConcert Genetic Testing Hematology

Policy CodePolicy N/A

Change TypeTitle and criteria reorganizationreference table updates

Effective DateN/A

Next Review DateN/A

Key ActionProvide clinical documentation that supports the member meets the listed medical necessity criteria when requesting genetic testing.

SourceLink

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ModifiedCommunity Health Plan WashingtonPolicy N/A

Concert Genetic Testing Hematology

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Policy Summary

PayerCommunity Health Plan Washington

PolicyConcert Genetic Testing Hematology

Policy CodePolicy N/A

Change TypeTitle and criteria reorganizationreference table updates

Effective DateN/A

Next Review DateN/A

Key ActionProvide clinical documentation that supports the member meets the listed medical necessity criteria when requesting genetic testing.

SourceLink

POLICY UPDATE CHANGES

Policy title renamed from Concert Genetic Testing: Hematologic Conditions (Non-Cancerous) to Concert Genetic Testing Hematology and criteria reorganized (including moving Fanconi anemia and known familial variant criteria to other policies/sections).

Added variant analysis to Hemoglobinopathies criteria and updated example tests in the Policy Reference Table (e.g., GeneDx entries, HBA1 single gene entries).

Known familial variant testing criteria were moved to the separate policy 'Genetic Testing: General Approach to Genetic and Molecular Testing'.

multiplegene tests and panels referenced

detailedcoverage sections with criteria

semi-annualpolicy review cadence

renamedpolicy renamed

Medical Necessity and Coverage Criteria

Factor V Leiden (F5) and Prothrombin (F2) Variant Analysis — Medically Necessary

Covered when ALL of the following apply as specified in the nested logic:

Overall

A: VTE qualifying event: The member had a venous thromboembolism (VTE) that meets at least one of: provoked by a nonsurgical major transient risk factor; provoked by pregnancy or postpartum; or provoked by combination oral contraceptive use.
B: Anticoagulation discontinuation planning: The member is planning to discontinue anticoagulation after VTE AND the member has a personal history of one of: cerebral venous thrombosis OR splanchnic venous thrombosis.
C: Minor provoking risk factor plus family history: The member has a minor provoking risk factor for VTE (e.g., immobility, minor injury, illness, infection) AND either: (1) two first- or second-degree relatives with VTE; OR (2) at least one relative had VTE under age 50 and the relative's thrombophilia status is unknown.
Defines family history per policy; first- or second-degree relatives preferred

Notes and limits: Current evidence does not support F5 and F2 variant analysis for all other indications (examples: fetal loss or adverse pregnancy outcomes).

Testing limited to indications listed above.

HBA1/HBA2 and/or HBB Variant Analysis — Medically Necessary

Covered when ANY of the following apply:

Hemoglobinopathy testing: 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 medically necessary when: A. the member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) are positive for a hemoglobinopathy; OR B. the member's hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) do not conclusively diagnose or rule out a hemoglobinopathy.

Current evidence does not support HBA1/HBA2 and/or HBB testing for other indications.

F8 and F9 Variant Analysis — Medically Necessary

Covered when ALL of the following apply:

Hemophilia testing: F8 and/or F9 variant analysis to confirm or establish a diagnosis of hemophilia A or B is medically necessary when either: A. the member has clinical features of hemophilia (examples: hemarthrosis, deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma or intracranial bleeding, prolonged oozing or renewed bleeding after tooth extraction/mouth injury/circumcision, prolonged/delayed bleeding or poor wound healing after surgery or trauma, unexplained GI bleeding or hematuria, heavy or prolonged menstrual bleeding especially with onset at menarche, prolonged recurrent bilateral nosebleeds, excessive bruising especially with firm subcutaneous hematomas); OR B. the member has laboratory features including normal platelet count, prolonged activated partial thromboplastin time (aPTT), AND normal prothrombin time (PT).

Current evidence does not support F8/F9 testing for indications other than those listed.

VWF Variant Analysis — Not supported

VWF: Current evidence does not support VWF variant analysis to confirm or establish a diagnosis of von Willebrand disease for all indications; diagnosis can be achieved by standard laboratory and biochemical testing.

Genetic testing for VWD is not supported as routine diagnostic testing.

Fanconi Anemia Multigene Panel — Medically Necessary

Covered when ALL of the following apply:

Fanconi panel: Multigene panel analysis to establish or confirm a genetic diagnosis of Fanconi anemia is medically necessary when: (A) the member had a positive or inconclusive chromosome breakage analysis, AND (B) the member displays at least one of the following: prenatal or postnatal short stature; abnormal skin pigmentation (e.g., café au lait macules, hyper- or hypopigmentation); skeletal malformations (e.g., hypoplastic thumb, hypoplastic radius, vertebral anomalies); microcephaly; ophthalmic anomalies; genitourinary tract anomalies (e.g., horseshoe kidney, hypospadias, bicornuate uterus); macrocytosis; increased fetal hemoglobin; cytopenia (especially thrombocytopenia, leukopenia, neutropenia); progressive bone marrow failure; adult-onset aplastic anemia; myelodysplastic syndrome (MDS); acute myelogenous leukemia (AML); early-onset solid tumors (examples: squamous cell carcinomas of head and neck, esophagus, vulva; cervical cancer; liver tumors); OR inordinate toxicities from chemotherapy or radiation.

Positive chromosome breakage testing should be followed by genetic testing to identify specific causative variants.

Other Covered Hematologic Conditions (Non-Cancerous)

Conditional coverage for rare genetic-associated hematologic conditions

Other rare conditions: Genetic testing to establish or confirm selected rare noncancerous hematologic conditions with known genetic association may be considered medically necessary to guide management; evaluate case-by-case per the criteria in this policy or refer to the policy 'Genetic Testing: General Approach to Genetic and Molecular Testing'.

Conditions listed in the policy are relatively rare and may justify coverage when clinically appropriate.

Policy criteria reorganization summary

Policy-level criteria updates and movements noted in revision history

Policy reorganizations: Known familial variant testing criteria were moved to the separate policy 'Genetic Testing: General Approach to Genetic and Molecular Testing'; Hemoglobinopathies criteria were expanded to explicitly include variant analysis; Factor VIII/IX criteria were renamed to 'Factor VIII (F8) and Factor IX (F9) Variant Analysis for Hemophilia A and B'.

Revision history shows multiple updates including Policy Reference Table changes and renaming; see policy revision notes for dates.

Genetic variant analysis for F5/F2, F8/F9, and VWF should be limited to the clinical indications specified in this policy. Examples of unsupported uses include testing for inherited thrombophilia (F5/F2) solely for evaluation of fetal loss or adverse pregnancy outcomes, and performing F8/F9 or VWF sequencing when the member does not meet the listed clinical or laboratory criteria. These tests are considered appropriate only when the specific medical-necessity criteria in the relevant sections are met; outside those indications the policy does not support testing.

The Centers for Disease Control and Prevention (CDC) guidance for von Willebrand disease emphasizes laboratory and biochemical testing for diagnosis and does not include routine genetic testing. Consistent with that guidance, this policy does not recommend genetic testing as a first-line or routine diagnostic tool for VWD and limits VWF variant analysis to situations where it is clinically justified and aligns with the diagnostic pathway described in the policy.

VWF variant analysis is not considered medically necessary for all indications because diagnosis of von Willebrand disease can be achieved by standard laboratory and biochemical testing. Genetic sequencing for VWF is therefore reserved for cases where biochemical testing and clinical context do not adequately establish the diagnosis or where molecular information is required for care decisions.

Testing of HBA1/HBA2, HBB and F8/F9 is covered only for the specific clinical scenarios described in this policy (for example, hemoglobinopathy testing when hematologic screening is positive or inconclusive; F8/F9 testing when characteristic clinical bleeding or corroborating laboratory features are present). Current evidence does not support these gene tests for indications outside the explicitly listed criteria, and such uses are not supported by this policy.

Policy language previously labeled as “Investigational” has been revised to clarify the clinical interpretation: statements now read that “current evidence does not support…” specific tests for all indications. This wording change preserves the underlying coverage stance while aligning terminology with updated evidence summaries and the policy’s revision history.

Coding and Billing Reference

Inherited Thrombophilia / Factor V and Prothrombin codesmixed

81240	Factor V (Leiden) Mutation Analysis (as referenced)
81241	Prothrombin (Factor II) 20210G>A Mutation Analysis (as referenced)
D68.2	Hereditary deficiency of other clotting factors (diagnosis codes included)
D68.51	Factor V deficiency (diagnosis codes included)
D68.59	Other coagulopathy (diagnosis codes included)
I82.90	Venous embolism and thrombosis of unspecified site
R79.1	Abnormal coagulation profile
Z86.2	Personal history of other venous thrombosis and embolism

Hemoglobinopathy codesmixed

81257	HBA1/HBA2 testing (alpha globin)
81259	HBB sequencing (beta globin)
81269	Gene dosage / copy number testing (as referenced)
81363	Beta globin gene dosage (as referenced)
81364	Additional globin gene tests (as referenced)
D53.9	Iron deficiency anemia, unspecified (diagnosis codes listed)
D56.0	Beta thalassemia
D56.1	Delta-beta thalassemia
D56.3	Sickle-cell trait or disease codes
D56.8	Other thalassemias

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Hemophilia and bleeding disorder codesmixed

81238	Factor VIII (F8) variant analysis (as referenced)
81403	Targeted gene sequencing, large panels (as referenced multiple times)
81406	Comprehensive genomic sequencing (as referenced)
81407	Comprehensive genomic sequencing add-on code (as referenced)
D66	Hereditary factor VIII deficiency (Hemophilia A)
D67	Hereditary factor IX deficiency (Hemophilia B)
I62.9	Nontraumatic intracranial hemorrhage, unspecified
M25	Other joint disorders (used in context of hemarthrosis)
N92.2	Excessive and frequent menstruation
R04.0	Epistaxis

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VWF and Fanconi anemia panel codesmixed

81408	VWF variant analysis / sequencing (as referenced)
81479	Unlisted molecular pathology procedure (used for some panels)
81162	Fanconi anemia gene testing (as referenced)
81307	Large deletion/duplication analysis (as referenced)
C92	Myeloid leukemia (diagnosis codes included in Fanconi list)
D46.9	Myelodysplastic syndrome, unspecified
D61.09	Other aplastic anemias
D61.89	Other specified aplastic anemias
D61.9	Aplastic anemia, unspecified
L81.3	Other specified disorders of pigmentation

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Family history (positive) — definition

DefinitionPositive family history: presence of one or more first- or second-degree relatives with a history of venous thromboembolism (VTE).

First-degree relativesParents, siblings, and children.

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

Context for useUsed in thrombophilia criteria requiring family history (e.g., minor provoking risk factor plus two first- or second-degree relatives with VTE or a relative with VTE <50 years when relative thrombophilia status is unknown).

Provider Requirements and Actionable Guidance

Prior Authorization

Coding and claim submission — prior authorization and code referencing

Prior authorization may be required for genetic testing described in this policy. Claims submitted for reimbursement should reference the CPT and ICD codes listed in the policy; the codes included are informational and do not guarantee coverage.

Codes referenced in this clinical policy are for informational purposes only.
Inclusion or exclusion of any codes does not guarantee coverage.

Note

Use updated Policy Reference Table entries when requesting authorization

The Policy Reference Table and coding entries were updated; prior authorization requirements remain tied to the health plan's coding and reference-table entries. Providers should use the updated test names and codes as listed in the Policy Reference Table when requesting prior authorization or submitting claims.

Hemoglobinopathies and Hemophilia reference-table entries were updated (some sequencing/deletion-duplication entries removed or renamed).

Background and Scope

This policy defines medical necessity for genetic testing used to diagnose or confirm inherited, non-cancerous hematologic disorders. Covered conditions include inherited thrombophilias (Factor V Leiden/F2), hemoglobinopathies (HBA1/HBA2, HBB), hemophilia A/B (F8/F9), Fanconi anemia (multigene panels when chromosome breakage testing is positive or inconclusive and clinical features are present), and other rare genetic hematologic conditions when criteria are met. The policy references standard laboratory screening methods and external guidance to restrict molecular testing to circumstances where it will meaningfully inform diagnosis or management.

Definitions and Test Descriptions

Inherited thrombophilia testing (F5/F2 variant analysis)

DefinitionInherited thrombophilia testing (F5/F2 variant analysis) is molecular analysis of Factor V (Leiden) and Prothrombin (F2) variants to confirm or establish an inherited thrombophilia in patients meeting specified VTE-related criteria.

Clinical contextIndicated when the member had a qualifying VTE event, is planning anticoagulation discontinuation in certain settings, or meets specified family-history plus provoking-factor criteria as listed in the policy.

Not supportedNot medically necessary for all other indications (examples include fetal loss or adverse pregnancy outcomes).

HBA1/HBA2 and/or HBB variant analysis

DefinitionHBA1/HBA2 and/or HBB variant analysis is genetic testing of the alpha (HBA1/HBA2) and/or beta (HBB) globin genes to confirm or establish a diagnosis of a hemoglobinopathy when hematologic screening is positive or inconclusive.

Policy Summary

PayerCommunity Health Plan Washington

PolicyConcert Genetic Testing Hematology

Policy CodePolicy N/A

Change TypeTitle and criteria reorganizationreference table updates

Effective DateN/A

Next Review DateN/A

Key ActionProvide clinical documentation that supports the member meets the listed medical necessity criteria when requesting genetic testing.

SourceLink

On This Page

Known familial variant testing criteria were moved to a separate policy; review updated mappings when ordering tests.

Prior Authorization

Provider must order tests per specified medical necessity criteria

Follow the policy's medical necessity criteria when ordering tests; order only tests and test types that are supported in the Policy Reference Table and meet the documented clinical criteria.

Order F5/F2 testing only when the member meets the VTE-related criteria listed under Factor V Leiden and Prothrombin variant analysis.
Order HBA1/HBA2 and/or HBB testing only when hematologic screening is positive or inconclusive per the hemoglobinopathy criteria.
Order F8/F9 testing only when clinical or laboratory features of hemophilia are present as specified.

Denial Risk

Do not order tests for unsupported indications listed in policy

Ensure tests ordered align with the policy's supported indications and reference-table examples; do not order genetic tests for indications explicitly not supported in the policy.

VWF variant analysis is not supported to confirm or establish von Willebrand disease for all indications; rely on standard laboratory/biochemical testing where appropriate.
F5/F2, F8/F9, and HBA1/HBA2/HBB testing are not supported for indications outside those explicitly listed.

Documentation Required

Clinical documentation must support listed medical necessity criteria

Clinical documentation submitted with prior authorization requests or claims must demonstrate that the member meets the specific medical necessity criteria for the genetic test being requested.

Examples of required documentation: history of qualifying VTE events for F5/F2 testing; hematologic screening results (MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) for HBA1/HBA2 or HBB testing; characteristic clinical/laboratory bleeding features for F8/F9 testing.
For Fanconi anemia panels, include chromosome breakage test results and clinical features listed in the Fanconi criteria.

Step Therapy

Positive chromosome breakage tests require follow-up genetic testing

If chromosome breakage testing is positive, follow-up genetic testing should be performed to identify the specific Fanconi anemia–causing variants for diagnosis and familial risk assessment.

Genetic testing enables accurate diagnosis and informs care for affected individuals and at-risk relatives.
Fanconi panel is medically necessary when chromosome breakage is positive or inconclusive and at least one qualifying clinical feature is present.

Billing Rule

Coding inclusion/exclusion does not guarantee coverage — verify current coding guidance

Inclusion or exclusion of CPT or ICD codes in this policy does not guarantee coverage. Providers should confirm current coding guidance and reference the most up-to-date coding resources before claim submission.

The tests, CPT codes, and ICD codes referenced are not comprehensive and are for informational purposes only.
Providers should reference the most up-to-date sources of professional coding guidance prior to claim submission.

Denial Risk

Orders for removed or replaced tests may not be covered — confirm supported test types

Tests removed, renamed, or replaced in the Policy Reference Table may affect coverage if providers order discontinued or unsupported test types; verify that the ordered test matches an active Policy Reference Table entry.

Examples include removal of 'F8 Sequencing Analysis' and replacement of deletion/duplication entries with 'Full Gene Sequencing'.
Review the Policy Reference Table after revisions to ensure ordered tests remain supported.

IndicationsAppropriate when screening tests (e.g., MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) are positive for a hemoglobinopathy or when screening does not conclusively diagnose or rule out a hemoglobinopathy.

UtilityMolecular analysis can confirm diagnoses such as alpha-thalassemia, beta-thalassemia, and sickle cell disease and is useful for genetic counseling, risk calculation, and prenatal/preimplantation testing when indicated.

F8/F9 variant analysis

DefinitionF8 and F9 variant analysis is genetic testing for variants in the Factor VIII (F8) and Factor IX (F9) genes to diagnose hemophilia A or B in the presence of characteristic clinical or laboratory bleeding features.

Clinical features supporting testingHemarthrosis, deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma/intracranial bleeding, prolonged bleeding after procedures, unexplained GI bleeding or hematuria, heavy menstrual bleeding, recurrent nosebleeds, or excessive bruising.

Laboratory features supporting testingNormal platelet count, prolonged aPTT, and normal PT are laboratory findings that indicate testing is appropriate.

Close relatives — definition

First-degree relativesParents, siblings, and children.

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

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