RTM Testing for Alpha-1 Antitrypsin Deficiency
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Defines medical necessity and coverage criteria for laboratory testing to diagnose alpha-1 antitrypsin deficiency (AATD), including serum AAT quantification, phenotyping/proteotyping, isoelectric focusing, and genotyping; applies to providers submitting claims to Oscar Health.
No material clinical or coverage changes in this revision.
Coverage Criteria and Clinical Indications
inv-01: Covered Indications
Testing meets criteria once per lifetime when ANY of the following indications are present:
Reference: policy indications
inv-02: Reflex or discordant result testing
Additional covered scenario:
See policy note regarding methods for phenotyping/proteotyping
inv-03: Not Medically Necessary / Not Covered
Not covered:
Policy states lack of published evidence for other indications.
inv-04: Guideline-based testing recommendations
ATS/ERS recommendation categories for diagnostic genetic testing (Type A-D):
From ATS/ERS Type A recommendations
From ATS/ERS Type B recommendations
From ATS/ERS Type C recommendations
From ATS/ERS Type D recommendations
Testing for alpha-1 antitrypsin deficiency (AATD) for any clinical situation not explicitly listed in the policy's covered indications does not meet criteria and is excluded from coverage. The policy basis is the lack of published scientific literature demonstrating that testing in these other situations is required for diagnosis or beneficial to patient care.
Population screening of neonates, adolescents, or adults is not recommended (Type D). An exceptional Type B recommendation may apply only in countries meeting all three specified conditions: (1) high AATD prevalence (~1/1,500 or greater), (2) high smoking prevalence, and (3) availability of adequate counseling services.
Laboratory-developed tests (LDTs) used for AATD must be validated and performed in-house under CLIA as high-complexity testing. LDTs are not approved or cleared by the U.S. Food and Drug Administration; however, FDA clearance or approval is not currently required for their clinical use.
For all other clinical situations not described in the covered indications, testing for AAT deficiency does not meet criteria because there is insufficient published evidence that the tests are required for diagnosis or improve treatment outcomes.
Predispositional testing and population screening of smokers with normal spirometry are classified as not recommended (Type C) and should not be encouraged as diagnostic strategies.
Indications for Diagnostic Testing
inv-34: Diagnostic testing for individuals meeting any of the listed indications
Diagnostic testing is covered for individuals meeting any listed indication and includes quantitative and qualitative methods:
Includes recommendation for isoelectric focusing for phenotyping; see policy for specifics.
inv-35: Specific clinical scenarios
Specific clinical scenarios in which testing is recommended:
Recommendations supported by ACG and Alpha-1 Foundation guidance and reflected in policy indications.
inv-36: Adults and adolescents with COPD or asthma with incompletely reversible airflow obstruction should be tested once quantitatively; abnormal screening results should undergo PI typing or genotyping per WHO/ERS.
Adults and adolescents with obstructive lung disease:
Quantitative testing as first step; follow-up typing/genotyping for abnormal results.
inv-37: Genetic and biochemical testing for suspected AATD
Acceptable test modalities for suspected AAT deficiency:
LDTs must be validated and performed under CLIA high-complexity regulations; FDA clearance not required for LDT clinical use.
Testing Frequency and Limits
Procedure Codes and Coding Details
| Column chromatography, includes mass spectrometry, if performed (eg, HPLC, LC, LC/MS, LC/MS-MS, GC, GC/MS-MS, GC/MS, HPLC/MS), non-drug analyte(s) not elsewhere specified, qualitative or quantitative, each specimen | |
| Mass spectrometry and tandem mass spectrometry (eg, MS, MS/MS, MALDI, MS-TOF, QTOF), non-drug analyte(s) not elsewhere specified, qualitative or quantitative, each specimen |
Provider Responsibilities and Billing Guidance
Authorization and medical necessity required
Services for alpha-1 antitrypsin (AAT) testing must meet authorization and medical necessity guidelines and are dependent on the individual’s benefit coverage at the time of the request; coverage does not guarantee reimbursement.
- Services must meet authorization and medical necessity guidelines.
- Application of criteria is dependent upon an individual’s benefit coverage at the time of the request.
CPT codes referenced for AAT testing
Policy lists CPT codes 82103 (Alpha-1‑antitrypsin; total) and 82104 (Alpha-1‑antitrypsin; phenotype) as the procedure codes associated with AAT testing; any payer prior authorization requirements for these codes should be applied per usual payer process.
Accurate coding and compliance with billing guidelines required
Providers must ensure claims are coded in accordance with industry-standard coding guidelines and submit accurate documentation of services performed; failure to follow appropriate coding/billing guidelines or reimbursement policies may result in claim denial or recoupment.
- Code claims per Uniform Billing Editor, CPT, HCPCS, ICD-10, CMS NCCI policies, and other industry standards.
- Oscar may deny the claim and/or recoup payment if coding/billing guidelines or reimbursement policies are not followed.
Submit accurate documentation demonstrating medical necessity
Providers are responsible for submission of accurate documentation that demonstrates testing meets the policy’s medical necessity criteria (e.g., symptomatic individuals or listed indications).
- Documentation must show the individual meets one of the covered indications in the policy.
- Claims should include supporting clinical information to demonstrate necessity at time of request.
Denial and recoupment risk for noncompliance
Claims may be denied or payments recouped if authorization, medical necessity, coding, or reimbursement policies are not followed; services must meet authorization and medical necessity guidelines and the member’s benefit coverage at time of request.
- Oscar may deny claims or recoup payments if guidelines are not followed.
- Services must meet authorization and medical necessity and be consistent with member benefits.
Provider responsibility for accurate documentation
Providers must submit accurate documentation of services performed and must demonstrate that testing meets the policy’s medical necessity criteria (for example, one of the listed covered indications or reflex testing criteria).
- Documentation should support the covered indication (see policy §III).
- Include results and rationale when reflex/discordant testing (isoelectric focusing/phenotyping) is performed.
LDTs must be validated and performed in‑house under CLIA high‑complexity
Laboratory‑developed tests (LDTs) must be validated and performed in‑house and are regulated by CMS as high‑complexity tests under CLIA '88; FDA clearance or approval is not required for clinical use of LDTs.
- LDTs are regulated by CMS as high‑complexity tests under CLIA '88.
- LDTs are not approved or cleared by the U.S. FDA; FDA clearance is not currently required for clinical use.
LDT regulatory statement (CLIA high‑complexity)
Many laboratories have developed and validated in‑house tests for AAT that must be performed under CLIA high‑complexity requirements; while some FDA‑cleared/approved tests exist, LDTs remain regulated under CLIA '88.
- LDTs are regulated by CMS under CLIA '88 as high‑complexity tests.
- FDA has approved some assays (e.g., SERPINA1 Variant Detection System, AlphaID), but LDTs are commonly used and must be validated in‑house.
Government policies (LCDs/NCDs) take precedence
If this policy conflicts with any applicable government policy (e.g., Medicare LCDs/NCDs or state Medicaid rules), the government policy will be used to make the determination; lack of alignment with government policy may trigger denial.
- Government policies (LCDs/NCDs) supersede this policy when conflicts exist.
- Providers should consult up‑to‑date Medicare/Medicaid coverage resources for applicable rules.
Procedure code list is a general reference — may not be all‑inclusive
Procedure codes listed in this Medical Policy are provided as a general reference tool and may not be all‑inclusive; verify coding requirements with current coding resources and payer processes.
Ordering and Consent Requirements
Ordering requires documentation of medical necessity
Documentation of medical necessity is required when ordering testing and coverage is dependent on the individual's benefit coverage at the time of request.
- Ensure clinical indication aligns with covered indications (once per lifetime when criteria met).
- Confirm member benefit coverage prior to authorization/claim submission.
Obtain informed consent and provide genetic counseling for family testing
Genetic testing should be performed after obtaining informed consent; family testing should include genetic counseling and consideration of testing relatives after counseling.
- For family testing after a proband is identified, AAT level testing alone is not recommended; offer genotyping and counseling.
- Parents, siblings, children and extended family should be offered genetic counseling and testing as appropriate.
Services Not Covered
Testing for AAT deficiency for clinical indications that are not listed among the policy's covered indications is not covered. Coverage is limited to the specific situations enumerated in the policy (for example: symptomatic adults with emphysema/COPD/asthma, unexplained liver disease, unexplained bronchiectasis, necrotizing panniculitis, affected siblings, C-ANCA–positive vasculitis, or neonatal cholestasis).
Population screening and predispositional fetal testing are generally not recommended by guideline classifications; population screening of neonates, adolescents, or adults is a Type D recommendation. The ERS has also noted there is no evidence supporting efficacy of augmentation therapy in PiSZ, PiMZ, or current smokers—an important clinical consideration though not a direct coverage exclusion. Exceptions to the population‑screening recommendation are narrow and limited to specific high-prevalence settings with appropriate counseling resources.
Background and Epidemiology
Alpha-1 antitrypsin deficiency (AATD) is an inherited, underrecognized disorder in which inadequate levels or abnormal forms of alpha-1 antitrypsin (AAT) predispose individuals to early-onset emphysema and to liver disease. AAT is produced in the liver and protects the lung from neutrophil elastase; deficiency can lead to lung tissue destruction and to hepatic injury from intracellular polymerization of abnormal AAT. Diagnostic strategies include quantitative serum AAT measurement, protein phenotyping (isoelectric focusing) or proteotyping (LC-MS/MS), and genotyping or sequencing for rarer variants; guidelines recommend at least once-in-a-lifetime testing for individuals meeting the policy’s listed indications.
Definitions
Policy Revision History
Original documentation: policy governance approved publication history entry.
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