ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Hematology

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Defines medical necessity criteria and coding guidance for genetic testing to diagnose or confirm inherited, non-cancerous hematologic disorders (e.g., thrombophilias, hemoglobinopathies, hemophilias, Fanconi anemia) for members of Ambetter Nevada-affiliated health plans.

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ModifiedAmbetter NevadaPolicy N/A

Concert Genetic Testing: Hematology

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Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Hematology (coverage criteria for benign hematologic genetic testing)

Policy CodePolicy N/A

Change TypeRevised criteria, coding table updates, and movement of some criteria between policies

Effective DateN/A

Next Review DateN/A

Key ActionDocument clinical indication and relevant laboratory/screening results and obtain prior authorization when required, ensuring submitted test names/codes match the policy reference table.

SourceLink

POLICY UPDATE CHANGES

Policy title and multiple criteria and coding entries were updated across versions (V1.2024 → V2.2024 → V1.2025) including additions and removals of specific test entries in the Policy Reference Table and movement of some criteria between policies.

Fanconi Anemia Multigene Panel criteria were moved into this Hematology policy from another Concert Genetic Testing policy.

Factor V Leiden and Prothrombin variant analysis criteria clarified wording to specify 'personal history' rather than 'history'.

multipletests/panels referenced

19CPT examples cited

yesclinical criteria present

severalnot supported uses

annualreview cadence

Genetic Testing Coverage Criteria — Hematology

F5/F2 variant analysis — medical necessity

Covered when ALL of the following are met

F5/F2 variant analysis general: F5 and F2 variant analysis to confirm or establish an inherited thrombophilia is medically necessary when the member had a venous thromboembolism (VTE) that meets at least one of the following: provoked by a nonsurgical major transient risk factor; provoked by pregnancy or postpartum; or provoked by combination oral contraceptive use.see node text

Branching alternatives for VTE provocation are listed; additional criteria below

Discontinuation of anticoagulation planning: When the member is planning to discontinue anticoagulation after VTE, AND the member has a personal history of cerebral venous thrombosis or splanchnic venous thrombosis.personal history of specified VTE subtypes

Both planning to discontinue anticoagulation AND specified personal history are required

Minor provoking factor plus family history: When 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 with VTE under age 50 and the relative's thrombophilia status is unknown.family history as described

Minor provoking factor plus the specified family history conditions are required

HBA1/HBA2 and HBB variant analysis — medical necessity

Covered when ANY of the following are met

Hemoglobinopathy testing indications: HBA1/HBA2 and/or HBB variant analysis to confirm or establish a diagnosis of alpha-thalassemia, beta-thalassemia, or sickle cell disease when: (A) hematologic screening results (examples: MCV, MCH, CBC, hemoglobin electrophoresis, or DCIP) are positive for a hemoglobinopathy, OR (B) hematologic screening results do not conclusively diagnose or rule out a hemoglobinopathy.positive or inconclusive screening tests

Current evidence does not support testing for other indications

F8/F9 variant analysis — medical necessity

Covered when ALL of the following are met

F8/F9 variant analysis indications: F8 and/or F9 variant analysis to confirm or establish a diagnosis of hemophilia A or B is medically necessary when the member has clinical features such as hemarthrosis (especially with little or no antecedent trauma), deep-muscle hematomas, intracranial bleeding without major trauma, neonatal cephalohematoma/intracranial bleeding, prolonged oozing or renewed bleeding after minor procedures, prolonged or delayed bleeding after surgery or trauma, unexplained GI bleeding or hematuria, heavy or prolonged menstrual bleeding (especially at menarche), prolonged recurrent bilateral epistaxis, or excessive bruising (notably with firm subcutaneous hematomas), OR when the member has laboratory features of normal platelet count, prolonged activated partial thromboplastin time (aPTT), and normal prothrombin time (PT).clinical features or specified lab pattern

Both listed laboratory criteria must be present when using laboratory features

VWF variant analysis — not supported

Not Supported / Not Medically Necessary

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

VWF genetic sequencing is considered not medically necessary across indications

Fanconi anemia multigene panel — medical necessity

Covered when ALL of the following are met

Fanconi anemia panel: Multigene panel analysis to establish or confirm a genetic diagnosis of Fanconi anemia is medically necessary when the member had a positive or inconclusive chromosome breakage analysis AND the member displays at least one feature such as short stature, abnormal skin pigmentation, skeletal malformations (e.g., hypoplastic thumb), microcephaly, ophthalmic anomalies, genitourinary anomalies, macrocytosis, increased fetal hemoglobin, cytopenias (especially thrombocytopenia, leukopenia, neutropenia), progressive bone marrow failure, adult-onset aplastic anemia, myelodysplastic syndrome (MDS), acute myelogenous leukemia (AML), early-onset solid tumors, or inordinate toxicities from chemotherapy or radiation.positive/inconclusive breakage analysis plus ≥1 listed clinical feature

Other indications are not supported

Other rare hematologic genetic conditions — conditional coverage

Covered when ALL of the following are met

Other rare hematologic conditions: Genetic testing to establish or confirm other listed rare non-cancerous hematologic conditions with known genetic associations may be considered medically necessary when used to guide management; evaluation will follow disorder-specific clinical features and the General Approach to Genetic and Molecular Testing policy when not specified here.condition-specific features per disease resources

Clinical features may be outlined in GeneReviews, OMIM, or similar resources

Covered genetic test categories with criteria

Policy covers variant analysis and multigene panels for a set of hematologic (non-cancer) conditions when clinical/laboratory features or family history indicate testing.

Conditions covered: Includes hemoglobinopathies (HBA1/HBA2/HBB), hemophilia (F8/F9 variant analysis), von Willebrand disease (VWF variant analysis), G6PD variant analysis, Factor V Leiden (F5) and Prothrombin (F2) variant analysis for inherited thrombophilia, and Fanconi anemia multigene panel when the specific criteria for each test are met.

Known-familial variant testing criteria were consolidated or moved between policies as noted in the policy history

This policy specifies that certain genetic tests are not supported for all indications. In particular, VWF variant analysis is stated as not supported to confirm or establish a diagnosis of von Willebrand disease for any indication because diagnosis can be achieved by standard laboratory and biochemical testing. The policy also clarifies that testing such as Factor V (F5) and Prothrombin (F2) variant analysis and HBA/HBB analyses are not supported for all other indications beyond the medical necessity criteria described (for example, routine screening or indications without supporting evidence such as fetal loss or adverse pregnancy outcomes).

The Centers for Disease Control and Prevention guidance on von Willebrand disease is cited in the policy to emphasize the recommended diagnostic approach. The CDC VWD guidelines provide recommended laboratory tests to aid diagnosis and do not include genetic testing as part of routine diagnostic laboratory evaluation, which supports the policy position that genetic testing for VWD is generally limited except where specific policy criteria apply.

Consistent with the policy’s exclusions and not-medically-necessary statements, genetic testing for von Willebrand disease (e.g., VWF sequencing) is considered not supported by current evidence to confirm VWD across indications because biochemical and laboratory assays suffice for diagnosis. Likewise, thrombophilia testing (e.g., F5/F2 variant analysis) is not supported for indications without evidence-based justification (including routine population screening and evaluation for fetal loss or adverse pregnancy outcomes) and should only be performed when the member meets the specific medical necessity criteria outlined elsewhere in the policy.

Language formerly labeled as 'Investigational' in the policy has been reframed to reflect the current evidence assessment: the policy now states that current evidence does not support certain genetic tests for specified indications. This reframing indicates that tests lacking supportive evidence per the stated criteria (for example, VWF variant analysis for routine diagnosis or thrombophilia testing for unsupported indications) may be considered not medically necessary and subject to denial if criteria are not met.

Coding Guidance and Examples

Referenced CPT CodesCPT

81240	Factor V (Leiden) Mutation Analysis (example mapping)
81241	Prothrombin (Factor II) 20210G>A Mutation Analysis (example mapping)
81257	HBB sequencing or related beta-globin analysis
81259	HBA1/HBA2 related code (example from list)
81269	HBB gene dosage/sequencing related code
81363	Beta globin sequencing (example listed)
81364	Beta globin gene dosage (example listed)
81238	Factor VIII (F8) related analysis (listed under hemophilia)
81403	Molecular pathology procedure (listed under hemophilia)
81406	Molecular pathology procedure (listed under hemophilia)

1–10 of 20

1/2

Referenced ICD-10 CodesICD-10

D68.2	Hereditary deficiency of other clotting factors
D68.51	Factor V deficiency/abnormality
D68.59	Other thrombophilia
I82.90	Embolism and thrombosis of unspecified vein
R79.1	Abnormal coagulation profile
Z86.2	Personal history of other venous thromboembolism
D53.9	Nutritional anemia, unspecified
D56.0	Alpha thalassemia
D56.1	Beta thalassemia
D56.3	Sickle-cell trait

1–10 of 31

1/4

Policy reference coding table (updated entries and vendor/test naming)mixed

affected codes

Policy indicates coding table updated; specific CPT/HCPCS codes referenced in coding table (not listed in this document extract)

inv-15: Laboratory screening triggers

Abnormal MCV or MCHMicrocytic or macrocytic red cell indices on CBC triggering further hemoglobinopathy evaluation

Abnormal CBCComplete blood count showing anemia, abnormal red cell indices, or other unexplained red cell abnormalities prompting further testing

Hemoglobin electrophoresis positive or inconclusiveHemoglobin fraction abnormalities (e.g., increased HbA2, HbF, presence of HbS) on electrophoresis or HPLC warrant HBA1/HBA2/HBB analysis

Positive DCIP (dichlorophenol indophenol) screenPositive or indeterminate DCIP screening result suggesting Hb variants or thalassemia trait

Presence of hemoglobin S on assayDetection of HbS (sickle hemoglobin) on hemoglobin assay (HPLC, IEF, cellulose acetate) as a trigger for confirmatory genetic testing

What Providers Must Do

Prior Authorization

Prior Authorization and Accurate Coding

Prior authorization may be required for genetic tests and panels referenced in this policy. Providers must verify benefit coverage and obtain prior authorization when indicated before testing to avoid claim denials.

Affected tests include single-gene analyses and multigene panels (see Policy Reference Table).
Use accurate CPT/ICD coding when submitting claims; inclusion here is informational only and does not guarantee coverage.

Prior Authorization

Prior Authorization Requirement

Coverage of genetic testing is governed by the policy criteria and the Policy Reference Table coding. Prior authorization decisions will follow the clinical criteria and the coding table entries; updated vendor/test names (e.g., GeneDx, ARUP) are reflected in the reference table.

Refer to the Policy Reference Table for the authoritative list of tests and example vendor names.
Tests listed in the reference table may require specific CPT codes for authorization.

Policy Background and Scope

This policy addresses genetic diagnostic testing for non-cancerous hematologic conditions. Covered topics include inherited thrombophilias (Factor V Leiden/F5 and Prothrombin/F2 variant analysis), hemoglobinopathies (HBA1/HBA2 and HBB variant analysis for alpha- and beta-thalassemia and sickle cell disease), hemophilia A/B (F8/F9 variant analysis), von Willebrand disease (VWF variant analysis, which the policy designates as not supported for diagnosis across indications), Fanconi anemia (multigene panel criteria moved into this policy), and other rare inherited hematologic disorders where testing may be condition-specific. The policy defines medical necessity by clinical features, laboratory screening results, and family history to guide when variant or multigene panel testing is appropriate.

Definitions and Key Terms

inv-26: Inherited thrombophilia testing (F5/F2)

PurposeConfirm or establish a diagnosis of inherited thrombophilia by detecting F5 (Factor V Leiden) or F2 (Prothrombin 20210G>A) variants

Typical clinical contexts: personal VTE with provocationMembers with venous thromboembolism provoked by a nonsurgical major transient risk factor, pregnancy/postpartum, or combination oral contraceptive use

Typical clinical contexts: anticoagulation discontinuation planningWhen planning to discontinue anticoagulation after VTE in members with personal history of cerebral or splanchnic venous thrombosis

Family-history–guided testingMembers with a minor provoking VTE risk factor plus significant family history (two first- or second-degree relatives with VTE, or relative with VTE under age 50 and unknown thrombophilia status)

inv-27: Hemoglobinopathy testing (HBA1/HBA2/HBB)

Policy Summary

PayerAmbetter Nevada

PolicyConcert Genetic Testing: Hematology (coverage criteria for benign hematologic genetic testing)

Policy CodePolicy N/A

Change TypeRevised criteria, coding table updates, and movement of some criteria between policies

Effective DateN/A

Next Review DateN/A

Key ActionDocument clinical indication and relevant laboratory/screening results and obtain prior authorization when required, ensuring submitted test names/codes match the policy reference table.

SourceLink

On This Page

Abnormal aPTT with normal PT

Isolated prolonged activated partial thromboplastin time suggesting coagulation factor deficiency or bleeding disorder screening abnormalities

inv-16: Clinical/pathology findings thresholds

Progressive bone marrow failureEvidence of progressive marrow failure (pancytopenia or declining counts) as a threshold to pursue genetic evaluation such as Fanconi anemia panel

Cytopenias or aplastic anemiaClinical/pathology findings including aplastic anemia or other cytopenias (adult-onset aplastic anemia, MDS) justify genetic testing

Macrocytosis or increased fetal hemoglobin (HbF)Marked macrocytosis or elevated HbF on testing is a qualifying laboratory/pathology finding to pursue diagnostic genetic testing

Clinical features listed for Fanconi anemiaAt least one FA-associated clinical feature (e.g., short stature, abnormal skin pigmentation, skeletal malformations, microcephaly, ophthalmic or genitourinary anomalies) plus positive/inconclusive chromosome breakage testing

Early-onset hematologic malignancy or excessive chemo/radiation toxicityDevelopment of early-onset AML/MDS or inordinate toxicities from chemotherapy/radiation supports pursuing genetic evaluation

Documentation Required

Clinical and Coding Documentation

Document the clinical indication and supporting diagnostic or screening laboratory results when requesting testing. Examples of useful documentation include MCV, MCH, CBC, hemoglobin electrophoresis, and DCIP results.

Include relevant hematologic screening results (e.g., MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) with the prior authorization request.
State the specific clinical question the test will address (diagnosis confirmation, inconclusive screening, familial variant identification).

Denial Risk

Investigational / Not Supported Indications

Current evidence does not support certain tests or indications. Do not order genetic testing for indications listed as not supported by evidence; these requests are likely to be denied.

VWF variant analysis: not supported for confirming von Willebrand disease — use standard laboratory/biochemical testing.
F5/F2 testing: not supported for general population screening, fetal testing, or other indications listed as unsupported (including some pregnancy loss and adverse pregnancy outcomes).
HBA1/HBA2 and/or HBB variant analysis: not supported for indications outside those specified in the criteria.
Policy language updated from 'investigational' to 'current evidence does not support...'

Note

Reference Table and Vendor/Test Naming

Providers should note that several policy reference table entries and example tests were updated; consult the Policy Reference Table when preparing authorization requests to ensure the correct test name and vendor are used.

Updated example labs include GeneDx and ARUP Laboratories entries under Hemoglobinopathies and Hemophilia.
Ensure the test name in the authorization request matches the Policy Reference Table entry to prevent processing delays.

Confirm or establish a diagnosis of alpha- or beta-thalassemia or sickle cell disease by HBA1/HBA2 and/or HBB variant analysis

Trigger: positive hematologic screeningTesting indicated when screening (MCV, MCH, CBC, hemoglobin electrophoresis, DCIP) is positive for a hemoglobinopathy

Trigger: inconclusive hematologic screeningTesting indicated when screening results do not conclusively diagnose or rule out a hemoglobinopathy

Clinical utilityMolecular analysis assists diagnosis in selected cases where basic hematology and hemoglobin analysis are inconclusive and supports genetic counseling and reproductive planning

inv-28: 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, great uncles, great grandchildren, and first cousins