OpenPayer is powered by Trek Health's payer performance platform. Trek continuously ingests, validates, and normalizes Transparency in Coverage data alongside payer policies and other commercial payer data to create a structured payer intelligence foundation. OpenPayer uses this foundation to deliver personalized search results, dynamically generated policy pages, and tailored policy monitoring based on each user's payers, specialties, billing codes, and areas of interest. The same intelligence powers broader payer performance workflows, including reimbursement benchmarking, contract evaluation, payer negotiations, and financial decision-making.

Modifiedalliance_health_ncPolicy 1S-9

Genetic and molecular testing — coverage criteria

Customize your policy alerts

Sign up for alliance_health_nc Policy 1S-9 alerts

Get alerted when Policy 1S-9 changes without checking for updates manually.

Monitor payer policy activity

Receive email alerts as soon as relevant payer policies are published or updated.

Defines genetic testing types, key terminology, and coverage provisions relevant to beneficiaries of the Prepaid Health Plan (PHP); applies to use, definitions, and administrative provisions for genetic testing services.

Policy Summary

Payeralliance_health_nc

PolicyGenetic and molecular testing — coverage criteria

Policy CodePolicy Policy 1S-9

Change TypeCoding updates (Attachment A, Section C)

Effective Date01/01/2025

Next Review Date

Key ActionObtain documented informed consent from the ordering licensed provider prior to performing genetic testing.

SourceLink

POLICY UPDATE CHANGES

Codes updated per the annual CPT update and Attachment A, Section C amended.

12+defined terms

3testing categories

appliesEPSDT provision

thresholdsfamily-history rules

Generally noprior approval

3genetic counseling unit limit

Coverage Criteria and Policy Scope

General Specific Criteria (3.2.1)

Medicaid shall cover Genetic Testing for Diagnosis and Treatment when the beneficiary meets ALL of the following specific criteria:

General specific coverage criteria: a. Displays clinical features or is experiencing current signs or symptoms of a genetic condition, or there is documented reasonable expectation that the beneficiary is at high-risk based on family history, personal history, or ethnicity; b. The test yields results that can be used to develop a clinically useful approach or course of treatment, or to cease unnecessary treatments; c. The results of the test allow providers to treat current symptoms affecting the beneficiary's health, manage treatable progression of an established disease, or alter recommended screening or monitoring; d. The ordering licensed provider shall obtain informed consent (indicating understanding of the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results) from the beneficiary, parent, legal guardian or authorized representative, prior to the genetic test; e. A clinically valid test, based on published peer-reviewed medical literature, is available for the suspected diagnosis; f. The test is proven to be scientifically valid for the identification of a specific genetically linked disease or clinical condition.

From Subsection 3.2.1

Cystic Fibrosis (CF) and Spinal Muscular Atrophy (SMA) (3.2.1.1)

Medicaid shall cover testing for CF and SMA when the Subsection 3.2.1 criteria are met AND all of the following:

Policy Summary

Payeralliance_health_nc

PolicyGenetic and molecular testing — coverage criteria

Policy CodePolicy Policy 1S-9

Change TypeCoding updates (Attachment A, Section C)

Effective Date01/01/2025

Next Review Date

Key ActionObtain documented informed consent from the ordering licensed provider prior to performing genetic testing.

SourceLink

On This Page

CF and SMA testing criteria: a. The beneficiary has signs or symptoms of Cystic Fibrosis (CF) or Spinal Muscular Atrophy (SMA); b. When the symptomatic beneficiary has a known familial variant, the ordered test is targeted to that specific familial variant; c. If no mutation is found when testing for common variants and the beneficiary is symptomatic, full gene sequencing may be ordered; d. After completing full gene sequencing, if no mutation is found, testing for duplication and deletion variants may be performed.

From Subsection 3.2.1.1

BRCA-Related Cancers (3.2.1.2)

Medicaid shall cover BRCA-related genetic testing when Subsection 3.2.1 criteria are met and one or more specified personal or family-history conditions apply:

Personal history criteria (BRCA): Personal history of breast cancer with any of: diagnosed ≤45 years; diagnosed ≤50 years with additional features (prior primary breast cancer; one or more close blood relatives with breast cancer at any age; one or more relatives with pancreatic or prostate cancer; or unknown/limited family history); diagnosed ≤60 years with triple negative breast cancer; diagnosed at any age with two or more close blood relatives with breast/pancreatic/prostate cancer, a close relative with breast cancer ≥50, one or more relatives with ovarian carcinoma, a close male relative with breast cancer, or ethnicity associated with higher mutation frequency (e.g., Ashkenazi Jewish). Also covered: personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer; male breast cancer; prostate cancer with qualifying family history patterns; metastatic prostate cancer (radiographic); pancreatic cancer with qualifying family history; BRCA1/2 mutation detected by tumor profiling in absence of germline analysis.

See Subsection 3.2.1.2 a–g

Family history criteria (BRCA): Family history qualifying criteria include: known BRCA1/2 mutation in family with a first- or second-degree relative meeting criteria; third-degree relative with breast cancer or ovarian carcinoma plus two or more close blood relatives with breast cancer (at least one before 50); family history of two or more primary breast cancers in one family member; two or more relatives on same side with breast, prostate, or pancreatic cancer; family history of epithelial ovarian/fallopian tube/primary peritoneal cancer; family history of male breast cancer; or family history of known mutation carriers.

See Subsection 3.2.1.2 h–m

Lynch Syndrome Related Cancers (3.2.1.3)

Medicaid shall cover multi-gene panel testing for Lynch Syndrome related cancers when Subsection 3.2.1 criteria are met and any one of the following conditions applies:

Affected beneficiary criteria (Lynch) - personal diagnosis: For a beneficiary with diagnosis of any Lynch Syndrome (LS)–related cancer, multi-gene panel testing is covered when one of: tumor with MMR deficiency confirmed by PCR, NGS, or IHC; diagnosis before age 50; another LS-related cancer concurrently or at a different time; at least one close (first or second-degree) relative diagnosed with LS-related cancer before 50; or at least two close (first or second-degree) relatives with LS-related cancers regardless of age.

From Subsection 3.2.1.3 a.1–5

Unaffected but family history criteria (Lynch): For beneficiaries ≥18 with a documented family history of LS-related cancer and unknown specific family mutation, multi-gene panel testing is covered when: at least one first-degree relative diagnosed before 50; at least one first-degree relative affected and the beneficiary also has another LS-related cancer; two or more first or second-degree relatives with LS-related cancer with at least one diagnosed before 50; three or more first or second-degree relatives with LS-related cancers regardless of age; or predictive models estimate ≥5% risk of a pathogenic MMR gene variant.5% risk (predictive models)

From Subsection 3.2.1.3 b.1–5

Known familial mutation (Lynch): For beneficiaries ≥18 in a family with a pathogenic familial LS gene mutation, covered testing includes targeted testing restricted to the known familial mutation, or full-scale genetic testing including multi-gene panel testing when the exact familial mutation is unidentified.

From Subsection 3.2.1.3 c.1–2

Gene Mutation Testing for Cancer Susceptibility (3.2.1.4)

Medicaid shall cover gene mutation testing for cancer susceptibility when Subsection 3.2.1 criteria are met AND ALL of the following are true:

Gene mutation testing for cancer susceptibility: a. The genetic condition is linked to a potentially substantial risk of developing cancer; b. Biochemical or other testing cannot identify the risk of the significant cancer linked to the genetic disorder; c. Scientific literature has established a specific mutation, or set of mutations, as a dependable indicator of the risk of developing malignancy; d. The outcomes of the genetic test may influence the medical approach (such as surveillance or lifestyle) for the beneficiary receiving the test.

From Subsection 3.2.1.4

Duchenne and Becker Muscular Dystrophy (3.2.1.5)

Medicaid shall cover genetic testing for DMD and BMD when Subsection 3.2.1 criteria are met AND ALL of the following:

DMD and BMD testing criteria: a. The beneficiary shows signs of DMD or BMD such as gradually developing symmetric muscular weakness (proximal greater than distal), often with enlarged calf muscles; for DMD, wheelchair dependence typically occurs before age 13, and for BMD it typically occurs after age 16; b. The beneficiary's serum creatine kinase (CK) level is higher than normal.CK > normal

From Subsection 3.2.1.5

Gene Mutation Testing for Cancer Susceptibility

Medicaid shall cover gene mutation testing for cancer susceptibility when the criteria in Subsection 3.2.1 and ALL of the following are met:

Cancer susceptibility testing criteria: a. The genetic condition is linked to a potentially substantial risk of developing cancer; b. Biochemical or other testing cannot identify the risk of the significant cancer linked to the genetic disorder; c. Scientific literature has established a specific mutation, or set of mutations, as a dependable indicator of the risk of developing malignancy; d. The outcomes of the genetic test may influence the medical approach (such as surveillance, lifestyle) for the beneficiary receiving the test.all

From Subsection 3.2.1.4

Duchenne and Becker Muscular Dystrophy

Medicaid shall cover genetic testing for DMD/BMD when the criteria in Subsection 3.2.1 and ALL of the following are met:

DMD/BMD criteria: a. Beneficiary shows signs of DMD or BMD (gradually developing symmetric proximal muscular weakness, often enlarged calves; wheelchair dependence typically before 13 for DMD and after 16 for BMD); b. Beneficiary's serum creatine kinase (CK) level is higher than normal.all

From Subsection 3.2.1.5

Red Blood Cell Antigen Genotyping

Medicaid shall cover red cell genotyping for a beneficiary who meets ANY one of the following conditions:

RBC genotyping indications: a. Diagnosed with sickle cell disease, thalassemia syndromes, hemoglobinopathies, or other conditions necessitating frequent blood transfusions; b. Experiencing post-transfusion hemolysis without detectable antibodies or identifiable alternate causes; c. Has undergone a blood transfusion within the past three (3) months and expects further transfusions; d. Has autoimmune hemolytic anemia; e. Has received multiple blood transfusions or tests positive for direct antiglobulin test (DAT+); f. Diagnosed with non-transfusion dependent thalassemia (NTDT) before receiving a transfusion in a pregnant beneficiary; g. To assist in management of hemolytic disease of the fetus and newborn (HDFN); or h. To reconcile inconsistent serological antibody findings.any

From Subsection 3.2.1.6

Medicaid Additional Coverage Criteria

In addition to the specific criteria, Medicaid shall cover genetic testing when ALL of the following additional criteria are met:

Additional Medicaid criteria: a. A certified genetic counselor or ordering provider shall evaluate and counsel the beneficiary pre- and post-test (refer to Subsections 1.1.9 and 6.2); b. The test must not be duplicative of another performed test; c. The test must be performed by a CLIA-certified laboratory.all

From Subsection 3.2.2

See Sections titled When the Procedure, Product, or Service Is Not Covered and General Criteria Not Covered in the Table of Contents for the policy's not-covered provisions; these sections identify the locations in the policy where exclusions and general non-coverage rules are defined.

EPSDT (Early and Periodic Screening, Diagnostic, and Treatment) does not require coverage of services that are unsafe, ineffective, experimental or investigational, or that are not generally recognized as accepted medical practice.

The policy expressly lists tests that are not covered, including when the beneficiary does not meet Subsection 3.2 criteria; repeat testing after a negative result; tests repeated when limited to once-in-a-lifetime testing; tests ordered for beneficiary family members; certain cell-free DNA screening in twin pregnancies with fetal demise or a vanishing twin or detected anomalies; and tests used to determine ancestry.

Red cell genotyping is excluded in specified situations, including beneficiaries who have undergone an allogeneic hematopoietic stem cell transplant. The policy also excludes red cell genotyping for diagnosing sickle cell disease, for routine pre-transfusion testing, and for routine solid organ transplant screening.

BRCA-related genetic testing is not covered when the beneficiary does not meet the criteria in Subsection 3.2.1.2; the policy also excludes repeat BRCA1/BRCA2 testing before initiating Lynparza and genetic testing of beneficiaries under 18 years of age in the BRCA-specific exclusion list.

When no specific CPT or HCPCS code exists for a procedure, providers must report the service using the appropriate unlisted procedure or service code and comply with the current CPT/HCPCS instructions regarding submission of a Special Report describing the service provided.

Follow the CPT and HCPCS guidance for unlisted codes, including the requirement to include the Special Report per the Instructions for Use in the current codebook edition.

If there is no specific CPT/HCPCS code for an unlisted procedure, the provider must follow the codebook instructions and submit the required Special Report as documented in the current CPT and HCPCS editions; proper coding and the Special Report are required for claim processing and do not guarantee payment.

Procedures, products, or services are not covered when the beneficiary does not meet Section 2.0 eligibility or Section 3.0 criteria, when the service duplicates another provider's procedure, or when the service is experimental, investigational, or part of a clinical trial. Additional specific non-coverage rules (e.g., repeat testing, ancestry testing) are listed in the policy's Specific Criteria Not Covered section.

Specific Covered Indications

Testing for CF/SMA, BRCA-related cancers, Lynch syndrome-related cancers, gene mutation cancer susceptibility, and DMD/BMD when specified clinical and family-history criteria are met.

Covered indications summary: Coverage applies for Cystic Fibrosis (CF) and Spinal Muscular Atrophy (SMA) when Subsection 3.2.1 plus CF/SMA-specific criteria are met; BRCA-related testing when Subsection 3.2.1 plus personal or qualifying family-history criteria are met; multi-gene panel testing for Lynch Syndrome related cancers when Subsection 3.2.1 and any qualifying affected or family-history criteria are met; gene mutation testing for cancer susceptibility when Subsection 3.2.1 and ALL gene-susceptibility conditions are met; and DMD/BMD testing when Subsection 3.2.1 plus clinical signs and elevated CK are present.

Consolidated from Subsections 3.2.1.1–3.2.1.5

Cancer susceptibility testing when criteria met; DMD/BMD diagnosis when clinical signs and elevated CK present; RBC antigen genotyping for listed clinical scenarios.

Cancer susceptibility testing when criteria met; DMD/BMD diagnosis when clinical signs and elevated CK present; RBC antigen genotyping for listed transfusion/hemolysis/HDFN scenarios.

Covered indications summary 2: Gene mutation testing for cancer susceptibility is covered when Subsection 3.2.1 and the additional gene-susceptibility criteria are satisfied; DMD/BMD testing is covered when clinical signs and elevated CK support the diagnosis; red blood cell antigen genotyping is covered for listed transfusion-related, hemolysis, pregnancy/HDFN, or serologic reconciliation indications.

Consolidated from Subsections 3.2.1.4–3.2.1.6

Billing Codes, Unit Limits, and Coding Guidance

Testing limitations referenced in Attachment A, Section Cmixed

No codes listed

BRCA-Related Cancers - Covered CodesmixedCovered

81162	BRCA-related cancer testing
81163	BRCA-related cancer testing
81164	BRCA-related cancer testing
81165	BRCA-related cancer testing
81166	BRCA-related cancer testing
81167	BRCA-related cancer testing
81212	BRCA-related cancer testing
81215	BRCA-related cancer testing
81216	BRCA-related cancer testing
81217	BRCA-related cancer testing

1–10 of 22

1/3

Cystic Fibrosis and Spinal Muscular Atrophy - Covered CodesmixedCovered

81173	Cystic Fibrosis testing
81174	Cystic Fibrosis testing
81204	Spinal Muscular Atrophy testing
81220	CF/SMA testing
81221	CF/SMA testing
81222	CF/SMA testing
81223	CF/SMA testing
81224	CF/SMA testing
81329	CF/SMA testing
81336	CF/SMA testing

1–10 of 12

1/2

Duchenne and Becker Muscular Dystrophy - Covered CodesCPTCovered

81161

DMD/BMD testing

Hereditary Colorectal Cancers (Lynch) - Covered CodesmixedCovered

81288	Hereditary colorectal cancer (Lynch) testing
81292	Hereditary colorectal cancer testing
81293	Hereditary colorectal cancer testing
81294	Hereditary colorectal cancer testing
81295	Hereditary colorectal cancer testing
81296	Hereditary colorectal cancer testing
81297	Hereditary colorectal cancer testing
81298	Hereditary colorectal cancer testing
81299	Hereditary colorectal cancer testing
81300	Hereditary colorectal cancer testing

1–10 of 22

1/3

Red Blood Cell Antigen Genotyping - Covered CodesCPTCovered

81105	Red blood cell antigen genotyping
81106	Red blood cell antigen genotyping
81107	Red blood cell antigen genotyping
81108	Red blood cell antigen genotyping
81109	Red blood cell antigen genotyping
81110	Red blood cell antigen genotyping
81111	Red blood cell antigen genotyping
81112	Red blood cell antigen genotyping
0001U	Red blood cell antigen genotyping

Other Gene Mutation Testing for Cancer Susceptibility and Related - Covered CodesmixedCovered

81120	Other gene mutation testing for cancer susceptibility
81121	Other gene mutation testing for cancer susceptibility
81175	Other gene mutation testing for cancer susceptibility
81176	Other gene mutation testing for cancer susceptibility
81191	Other gene mutation testing for cancer susceptibility
81192	Other gene mutation testing for cancer susceptibility
81193	Other gene mutation testing for cancer susceptibility
81194	Other gene mutation testing for cancer susceptibility
81206	Other gene mutation testing for cancer susceptibility
81207	Other gene mutation testing for cancer susceptibility

1–10 of 45

1/5

Other Single Gene Tests - Covered CodesmixedCovered

81171	Other single gene tests
81172	Other single gene tests
81200	Other single gene tests
81240	Other single gene tests
81241	Other single gene tests
81242	Other single gene tests
81243	Other single gene tests
81244	Other single gene tests
81251	Other single gene tests
81255	Other single gene tests

1–10 of 28

1/3

Other Gene Panels - Covered CodesCPTCovered

81412	Other gene panels
81441	Other gene panels
81443	Other gene panels

Genetic Counseling - Covered CodesCPTCovered

96041

Genetic counseling (per 30 minutes); unit limitations = 3 units (1 unit = 30 minutes) 90 minutes total

Covered CPT Codes - Single CodeCPTCovered

96041

Genetic Counseling

Unlisted Procedure/Service Coding Guidancemixed

No codes listed

CK level — DMD/BMD diagnostic threshold

CK levelSerum creatine kinase (CK) level 'higher than normal' required as part of DMD/BMD diagnostic criteria

Clinical contextElevated CK accompanies progressive symmetric proximal muscle weakness and supports DMD (wheelchair by ~age 13) or BMD (typically after 16)

UseCK elevation is an objective laboratory threshold that, together with clinical signs, qualifies a beneficiary for DMD/BMD genetic testing under the policy

Genetic counseling time limit

Maximum time coveredGenetic counseling billed with CPT 96041 limited to 3 units (1 unit = 30 minutes) totaling 90 minutes

Unit definitionPolicy defines 1 unit for CPT 96041 as 30 minutes

Billing codeApply CPT code 96041 when billing genetic counseling up to the 3-unit limit

Genetic counseling unit limit (CPT 96041)

Unit limit for CPT 960413 units maximum per claim (1 unit = 30 minutes), totaling 90 minutes covered

Provider billing noteGenetic counseling services must be provided by certified counselor or eligible provider; supervising physician bills for counselor services when applicable

Documentation requirementDocument counseling content and informed consent in the beneficiary's health record when billing 96041

Provider Responsibilities, Prior Approval, and Documentation

Prior Authorization

Prior approval may be required for some genetic tests

Some genetic tests referenced in this policy require prior approval; the policy lists “Prior Approval” and “Prior Approval Requirements” in the Table of Contents as evidence that prior authorization processes exist for certain services.

Prior Authorization

Prior approval still applies for beneficiaries under 21 (EPSDT)

If prior approval is required for a service, beneficiaries under age 21 remain subject to the prior approval process; EPSDT does not waive prior approval requirements and providers should follow NCTracks guidance for EPSDT and prior approval.

Prior Authorization

Prior approval required when exceeding Attachment A, Section C limits

Prior approval is not required for genetic testing in general, but prior approval is required when providers request services that exceed the testing limits found in Attachment A, Section C; follow the Prior Approval submission requirements in Subsection 5.2.1 when requesting approval.

Billing Rule

Comply with NCTracks and Medicaid billing guidance

Providers must comply with NCTracks Provider Claims and Billing Assistance Guide, Medicaid bulletins, fee schedules, and applicable Medicaid guidance for claims, coverage, and reimbursement.

Follow NCTracks Provider Claims and Billing Assistance Guide and Medicaid bulletins for coverage and reimbursement specifics.

Billing Rule

Genetic counseling unit limit and unlisted-procedure reporting

Genetic counseling billed with CPT code 96041 is limited to 3 units (each unit = 30 minutes) for a maximum of 90 minutes total. For procedures without a specific CPT/HCPCS code, comply with CPT/HCPCS instructions and submit the required Special Report.

96041 unit limit = 3 units (90 minutes total).
If no specific CPT/HCPCS code exists, use the appropriate unlisted code and supply the Special Report per CPT/HCPCS instructions.

Note

No action specified

No content required for this placeholder in the inventory.

Step Therapy

No step therapy specified

This policy does not specify any step therapy requirements.

Prior Authorization

EPSDT exception process and documentation for <21

EPSDT exceptions for beneficiaries under 21 should be handled per Subsection 2.2.1; providers must document how the requested service meets EPSDT criteria when requesting exceptions to policy limitations.

Documentation must show how the service corrects or ameliorates a defect, illness, or condition and meets EPSDT criteria.

Billing Rule

Follow modifier guidelines when billing

Providers shall follow applicable modifier guidelines when billing unlisted procedures or other services, per the policy's instructions on modifiers.

Apply appropriate modifiers according to CPT/HCPCS and billing guidance.

Documentation Required

Document genetic counseling content and informed consent

When a licensed provider performs genetic counseling, they must discuss and document likelihood of developing disease, disease impact, possibilities to modify risk or impact, anticipated future developments, and that informed consent was obtained after the beneficiary verbalized understanding.

Document: likelihood of disease; impact of disease; possibility of modification; anticipated future developments; informed consent with beneficiary verbalized understanding.

Documentation Required

Obtain and document informed consent before testing

The ordering licensed provider must obtain and document informed consent prior to testing that demonstrates the beneficiary (or parent/guardian/authorized representative) understands the testing procedure, benefits and limitations of the test, and possible consequences of test results.

Documentation Required

Document EPSDT criteria when requesting exceptions or prior approval

When requesting EPSDT exceptions or prior approval for beneficiaries under 21, providers must document how the requested service meets EPSDT criteria per Subsection 2.2.1 and follow prior approval procedures as required.

EPSDT documentation must show medical necessity to correct or ameliorate the beneficiary's condition.

Prior Authorization

Submit prior approval with complete supporting health records

Providers must submit a prior approval request and all health records and supporting documentation that demonstrate the beneficiary meets the specific criteria in Subsection 3.2; re-requests for additional units (Attachment A, Section C) require the additional supporting documentation described in Subsection 5.3.2.

Submit the prior approval request and all health records supporting Subsection 3.2 criteria.
When requesting additional units, include reason for test, previous related lab results, how results improve outcomes, and how results alter treatment/management.

Billing Rule

Report diagnosis/procedure codes to highest specificity and use current code editions

Report ICD-10-CM and PCS diagnosis and procedure codes to the highest level of specificity that supports medical necessity and use the current CPT, HCPCS, and UB-04 Data Specifications Manual editions in effect at the time of service for code descriptions.

Use highest-level specific ICD-10-CM/PCS codes that support medical necessity.
Use current CPT/HCPCS/UB-04 editions for coding and descriptions.

Billing Rule

Follow CPT/HCPCS instructions and submit Special Report for unlisted codes

Comply with CPT and HCPCS instructions for unlisted procedures and services; supply the Special Report as required by the current CPT/HCPCS editions when reporting unlisted codes.

Follow CPT/HCPCS 'Unlisted Procedure or Service' instructions and submit the Special Report per the codebook.

Prior Authorization

Policy references prior approval processes

Prior Approval processes are referenced in the Table of Contents and Prior Approval Requirements sections of this policy, indicating that prior approval workflows exist for certain coverage decisions.

Documentation Required

Verify beneficiary eligibility at each service

Provider(s) shall verify each Medicaid beneficiary's eligibility each time a service is rendered; beneficiaries may be ineligible for the service due to their eligibility category.

Verify Medicaid eligibility at each encounter.

Denial Risk

Denial risk if eligibility or coverage criteria are unmet or service duplicates/experimental

Claims may be denied when the beneficiary does not meet eligibility or the specific policy criteria, when the procedure duplicates another provider's service, when the service is experimental/investigational or part of a clinical trial, or when tests are repeated contrary to the policy (e.g., repeat after negative result or when limited to once-in-a-lifetime).

Billing Rule

Use the most specific billing codes to avoid denial

Providers must report the most specific billing code that accurately and completely describes the procedure; failure to report the most specific code or to follow current CPT/HCPCS/UB-04 specifications may result in claim denial.

Billing Rule

Supply Special Report and follow unlisted-procedure coding rules

Failure to follow CPT/HCPCS instructions for unlisted procedures or to supply the required Special Report may result in claim processing issues or denials.

Provide the Special Report when billing unlisted CPT/HCPCS codes as required by the current codebooks.

Billing Rule

Genetic counseling provider certification and billing rules

When genetic counseling services are provided, counseling must be delivered by a genetic counselor certified by the American Board of Genetic Counseling or an individual with Active Candidate Status and employed by or under contract to entities that employ licensed physicians; licensed physicians are responsible for on-site supervision and the supervising physician bills for the service.

Genetic counselor must be ABGC-certified or Active Candidate Status.
Genetic counselor employed by or under contract to entities employing licensed physicians.
Supervising physician provides on-site supervision and bills for the service.

Key Definitions

BRCA-Related Cancers

DefinitionCancers associated with pathogenic variants in BRCA1 or BRCA2 genes; in women includes breast, ovarian, and pancreatic cancers; in men includes prostate, pancreatic, and breast cancers

ImplicationPresence of BRCA1/2 mutation elevates susceptibility and guides testing and management decisions

Policy contextBRCA-related cancers are the basis for coverage of BRCA genetic testing when policy criteria are met

Breast Cancer

Primary breast cancerInitial malignant growth of cells in breast tissue requiring early detection for effective treatment

Triple negative breast cancerAggressive subtype lacking estrogen, progesterone, and HER2 receptors; may require specialized therapies

RelevanceBreast cancer subtypes and age/onset features are used in policy criteria for BRCA testing eligibility

Close Relatives (Degree definitions)

First-degree relativeParents, full siblings, and children

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

Third-degree relativeFirst cousins, great-grandparents, and great-grandchildren on the same side of the family

Cytogenetic Testing

DefinitionExamination of cells from tissue, blood, bone marrow, or amniotic fluid to identify chromosomal alterations (breaks, absences, rearrangements, aneuploidy)

PurposeAids in diagnosis of genetic disorders, certain cancers, and treatment planning

Specimen sourcesIncludes tissue, blood, bone marrow, and amniotic fluid

Direct Antiglobulin Test (DAT)

DefinitionLaboratory test that detects immunoglobulin or complement on the surface of red blood cells to determine immune vs non-immune hemolysis

InterpretationDAT results must be interpreted with clinical and other laboratory information

Clinical roleUsed to help determine cause of hemolysis

Family History

DefinitionInformation about health conditions in close relatives used to assess risk and plan personalized care

Use in policyFamily history is a key element for qualifying beneficiaries for hereditary cancer and other genetic testing per policy criteria

CollectionStructured family medical history and pedigree are required components of genetic counseling

Genetic Testing

DefinitionAnalysis of an individual's genetic code to identify variations, irregularities, or mutations that may indicate pathology

ScopeIncludes single-gene testing, multi-gene panels, sequencing, and duplication/deletion analysis as described in policy

PurposeUsed for diagnosis, treatment planning, surveillance, and reproductive decision-making when clinically indicated

Genetic Counselor

Certification requirementGenetic Counselor: certified by the American Board of Genetic Counseling or has Active Candidate Status

Employment/supervisionGenetic counselors shall be employed by or under contract to entities that employ licensed physicians with on-site physician supervision

RoleProvides specialized genetic risk counseling and aids informed decision-making

Genetic Counseling (process)

DefinitionGenetic counseling is a communication process including structured family history collection, pedigree construction, risk assessment, discussion of natural history and recurrence risks, and testing/screening options

DocumentationCounseling must include discussion and documentation of likelihood and impact of disease, possible modification, future developments, and informed consent obtained after beneficiary verbalized understanding

Provider alternativeA licensed provider may provide genetic counseling when certified counselors are unavailable, with equivalent documentation requirements

Gleason Score

DefinitionGleason Score is a grading system for prostate cancer aggressiveness ranging from 2 to 10 used to guide treatment and prognosis

Policy noteWithin Section 3.2.1, mentions of prostate cancer refer to Gleason score ≥7 for coverage considerations

Clinical useGuides treatment decisions and eligibility in hereditary cancer criteria

Lynch Syndrome / MMR Deficiency

DefinitionLynch Syndrome–related cancers include colorectal, endometrial, gastric, ovarian, pancreatic, urothelial, brain (often glioblastoma), biliary tract, small intestinal cancers, and certain sebaceous neoplasms; MMR deficiency impairs DNA repair and increases cancer risk

MechanismMMR deficiency arises from inherited mutations in mismatch repair genes leading to defective repair of DNA replication errors

RelevanceThese cancer types and MMR deficiency criteria are used to determine coverage for Lynch syndrome multi-gene panel testing

MMR Deficiency

DefinitionMMR deficiency: inadequate mismatch repair function causing inability to fix DNA replication errors and elevating cancer risk; beneficiaries may inherit pathogenic variants in MMR genes

Clinical implicationMMR deficiency detection (tumor or germline) influences eligibility for Lynch-related testing per policy

Testing methodsMMR deficiency may be identified by PCR, NGS, or IHC in tumor testing as referenced in coverage criteria

Lynch Syndrome (LS) Related Cancers

DefinitionLynch Syndrome related cancers include colorectal, endometrial, gastric, ovarian, pancreas, urothelial, brain (typically glioblastoma), biliary tract, small intestinal cancers, and sebaceous neoplasms seen in Muir-Torre syndrome

Coverage roleThese listed cancer types form the basis for multi-gene panel testing eligibility under Lynch syndrome criteria

Predictive modelsPredictive model thresholds (e.g., ≥5% risk) for MMR pathogenic variants are used for some unaffected individuals' eligibility

RBC Antigen Genotyping

DefinitionRBC antigen genotyping determines allelic variants that predict red blood cell antigen phenotypes, useful after transfusion or when serologic results conflict

Clinical usesUsed to reconcile inconsistent serological antibody findings, manage post-transfusion hemolysis, guide transfusion planning, and assist in HDFN management

Specimen contextParticularly useful for beneficiaries with recent transfusions or variant/weakly expressed antigens

Gene mutation testing for cancer susceptibility

DefinitionGene mutation testing for cancer susceptibility: testing when the genetic condition confers substantial cancer risk, biochemical testing cannot identify the risk, literature establishes specific mutation(s) as dependable indicators, and results may influence management

PurposeIdentifies pathogenic variants that alter surveillance, prevention, or treatment strategies

Test typesIncludes single-gene testing, targeted familial mutation testing, and multi-gene panels as appropriate

DMD/BMD testing

DefinitionDMD/BMD testing: genetic testing for Duchenne and Becker muscular dystrophy when beneficiary shows progressive symmetric proximal muscle weakness and has an elevated serum creatine kinase (CK)

Clinical signsSymptoms include proximal > distal weakness, often enlarged calves, with wheelchair dependence typically before 13 in DMD and after 16 in BMD

Laboratory thresholdPolicy requires CK higher than normal in conjunction with clinical signs to qualify for testing

Genetic counselor certification

Certification requirementGenetic counseling must be provided by a provider or genetic counselor certified by the American Board of Genetic Counseling or have Active Candidate Status

Employment/supervisionGenetic counselors must be employed by or under contract to entities that employ licensed physicians with on-site physician supervision; supervising physician bills for the service

Billing implicationWhen certified counselors are unavailable, licensed providers may provide counseling with equivalent documentation but certification/supervision rules apply

Billing unit for CPT 96041

Unit definitionBilling unit for CPT 96041 is defined as 30 minutes

Unitization noteUse this 30-minute unit definition when calculating the 3-unit (90-minute) maximum for CPT 96041

Billing codeCPT 96041 applies per 30-minute unit increments as defined in the policy

Eligibility and EPSDT Considerations

Family medical history is an integral part of eligibility and risk assessment for genetic testing; the policy references family history as a determinant of high risk and as a basis for many covered indications (see coverage criteria subsections for specific family-history constructs).

The provided content does not establish universal prior testing prerequisites for most genetic tests. For CF and SMA, when a symptomatic beneficiary has a known familial variant the policy requires targeted testing first; if initial common-variant testing is negative in a symptomatic individual, the policy permits full gene sequencing and, if sequencing is negative, duplication/deletion analysis.

Note

Exclusions and Non-Covered Services

The Table of Contents references sections titled Specific Criteria Not Covered, indicating the policy contains discrete not-covered lists; however, the excerpted text does not reproduce any further explicit test-level exclusions beyond those summarized elsewhere in the policy.

Services that are unsafe, ineffective, experimental, investigational, or not generally recognized as accepted medical practice are not covered under Medicaid and are not required under EPSDT; the policy lists these as general exclusions in the not-covered section.

The Table of Contents restates the presence of a Specific Criteria Not Covered section in the policy, serving as a placeholder and cross-reference to detailed exclusions located in the not-covered sections of the document.

Policy Changes and Revision History

2025-02-01amendmentLatest

Attachment A, Section C amended and codes updated per the annual CPT update (operational coding updates effective 01/01/2025).

2024-10-01amendment

All sections and attachments amended; CCP 1S-4 and 1S-5 terminated with coverage absorbed into this new policy; new coverage criteria added for Lynch syndrome, cancer susceptibility, DMD/BMD, and RBC genotyping; new CPT codes added under general criteria in Section 3.2.1(a).

2024-06-01effective_date

Policy effective date established as 06/01/2024 (noted in history with subsequent amendment 10/01/2024).

Background and Rationale

Genetic testing analyzes chromosomes, DNA, RNA, or gene products to detect abnormalities for diagnosis, treatment planning, and monitoring. The policy recognizes three broad testing categories: cytogenetic (chromosomal), biochemical (protein/function), and molecular (DNA sequence) testing.