CurrentBlue Cross Blue Shield - New MexicoPolicy CPCPLABO61

Testing for Alpha-1 Antitrypsin Deficiency

Lab management and reimbursement criteria for testing for alpha-1 antitrypsin (A1AT) deficiency, including serum quantification, phenotyping (isoelectric focusing/proteotyping) and genotype testing; applies to providers submitting claims to BCBSNM.

Policy Summary

PayerBlue Cross Blue Shield - New Mexico

PolicyTesting for Alpha-1 Antitrypsin Deficiency

Policy CodePolicy CPCPLABO61

Change TypeNew policy

Effective DateJan 1, 2023

Next Review Date

Key ActionReview plan documents for product-specific coverage and prior authorization requirements before ordering A1AT testing.

SourceLink

POLICY UPDATE CHANGES

New policy created for testing for Alpha-1 Antitrypsin Deficiency.

1.0version

2023-01-01plan effective date

Jul 27, 2022last review

1update entries

Coverage Criteria for Alpha-1 Antitrypsin Testing

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Indications listed in policy: Symptomatic adults with emphysema, COPD, or asthma (particularly with persistent airflow obstruction not completely reversible with bronchodilators); individuals with unexplained liver disease; adults with necrotizing panniculitis; individuals with persistent obstruction on pulmonary function tests without identifiable risk factors (e.g., cigarette smoking, occupational exposure); siblings of an individual with known AAT deficiency; individuals with bronchiectasis without evident etiology; individuals with anti-proteinase 3 (C-ANCA)–positive vasculitis; early-onset emphysema (age ≤ 45 years).

From serum testing and guideline recommendations (Type A/B)

inv-02: Phenotyping after negative/discordant genotype

Additional reimbursable scenario

Phenotyping after genotype negative or discordant: Isoelectric focusing/phenotyping (Pi‑typing or proteotyping) may be reimbursable when there is strong clinical suspicion based on laboratory testing and symptoms AND the individual has negative genotype testing for common variants or there are discordant results between A1AT serum levels and the proteotype.

From serum testing section

Testing for alpha-1 antitrypsin (AAT) deficiency is covered only for the clinical indications specifically listed in this policy. Tests performed for indications not listed — including routine population screening, predispositional testing, fetal testing, or other general screening of asymptomatic individuals — are not reimbursable. Providers should confirm that the clinical scenario meets a listed reimbursable indication before ordering or submitting claims.

Clinical guideline categories identify situations in which genetic testing is not recommended. Examples include: Type C—adults with asthma in whom airflow obstruction is completely reversible, pre-dispositional testing, and population screening of smokers with normal spirometry; and Type D—pre-dispositional fetal testing and population screening of neonates, adolescents, or adults. These guideline-derived categories should be used to inform ordering decisions and are considered not recommended for genetic testing under this policy.

Specific Indications Considered Medically Necessary

inv-15: Covered indications and clinical features for diagnostic testing

Covered when ANY of the following clinical features or contexts are present (per ATS/ERS recommendations reflected in policy)

Clinical contexts: Symptomatic adults with emphysema, COPD, or asthma who have persistent airflow obstruction; individuals with unexplained liver disease; adults with necrotizing panniculitis; individuals with bronchiectasis of unknown etiology; siblings of a person with known AAT deficiency; individuals with anti‑proteinase 3 (C‑ANCA)–positive vasculitis; early‑onset emphysema (age ≤45 years); individuals with persistent obstruction on PFTs without identifiable risk factors (e.g., non‑smokers, no occupational exposure).

Includes ATS/ERS–aligned recommendations and clinical factor list

Non‑Reimbursable Testing

NOT COVERED: Routine population screening, predispositional testing (including pre-dispositional fetal testing), and testing performed for situations not listed as reimbursable in this policy are not covered. The policy follows guideline recommendations that generally discourage population or predispositional screening except in limited public-health scenarios described by guideline criteria.

Coding and Billing

Covered CPT/HCPCS Codesmixed

No codes listed

inv-06: Early-onset emphysema age threshold — 45 years or less

Early-onset emphysema age threshold45 years or less

Related clinical factorConsidered among clinical factors for AAT testing (e.g., emphysema with prominent basilar hyperlucency)

Use in coverage criteriaListed as a specific indication supporting reimbursable testing for AAT deficiency

Provider Responsibilities and Action Items

Note

Coverage may vary by product

BCBSNM has implemented certain lab management reimbursement criteria. Coverage may vary by product; providers should review plan documents to determine coverage and any product-specific requirements.

Not all lab management reimbursement criteria apply to each product. Review member-specific plan documents (e.g., Certificates of Coverage, benefit booklets, Summary Plan Descriptions) to confirm eligibility and coverage rules.

Documentation Required

Documentation responsibility

Providers are responsible for submission of accurate documentation of services performed and for coding claims using valid HIPAA-approved code sets and industry coding guidelines.

Submit claims using appropriate CPT, HCPCS, ICD-10, NDC, and other required code sets.
Claims are subject to code edit protocols, provider contract language, medical policies, and coding software logic.
Upon request, providers should submit additional documentation to support medical necessity and correct coding.

Denial Risk

Coding and denial risk

Claims are subject to code edit protocols and may be denied if coding, documentation, or the clinical indication do not support reimbursement.

Claims must follow industry-standard coding (e.g., AMA CPT, CMS NCCI edits) and applicable provider contract terms.
Testing for alpha-1 antitrypsin deficiency is reimbursable only for the indications listed in the policy (e.g., symptomatic adults with emphysema/COPD/asthma, unexplained liver disease, necrotizing panniculitis, persistent obstruction without identifiable risk factors, siblings of affected individuals, bronchiectasis without evident etiology, ANCA-positive vasculitis, or when phenotype is indicated after discordant/negative genotype results).
Testing for alpha-1 antitrypsin deficiency is not reimbursable for other, unsupported indications and may be denied.

Prior Authorization

Provider action note

Provider action: review member plan documents, ensure documentation supports the submitted codes and clinical indication, and be prepared to furnish additional records upon request to avoid claim denials.

Verify member product coverage before ordering/testing.
Document clinical signs, symptoms, and relevant laboratory results that justify alpha-1 antitrypsin testing per the listed indications.
Ensure genotype/phenotype testing decisions and results are clearly documented when performed to explain any additional phenotyping (isoelectric focusing/proteotyping) after genotype testing.

Ordering and Authorization Requirements

Note

Confirm ordering and product-specific requirements in plan documents

Review plan documents for any product-specific ordering requirements; the policy implies ordering by the clinician responsible for the member's care but does not specify who may order testing.

Confirm whether prior authorization or other order-level requirements apply for the member's product.
Ensure the ordering clinician is accountable for the member's care and documents clinical indications consistent with policy criteria.

Definitions

inv-13: Serum quantification — Measurement of alpha-1 antitrypsin protein concentration in serum.

Test definitionMeasurement of alpha-1 antitrypsin (A1AT) protein concentration in serum

PurposeUsed as an initial laboratory evaluation when clinical indications for AAT deficiency are present

Interpretation noteSerum quantification results may be discordant with genotype or proteotype and prompt further testing (phenotyping/genotyping)

inv-14: Phenotyping (isoelectric focusing/proteotyping) — Laboratory methods (isoelectric focusing or LC-MS proteotyping) to identify A1AT protease inhibitor (Pi) types including Z and S alleles.

Test definitionLaboratory methods (isoelectric focusing or LC-MS proteotyping) to identify A1AT protease inhibitor (Pi) types including Z and S alleles

IndicationsMay be reimbursable when there is strong suspicion and when genotype is negative or results are discordant with serum levels

Methods referencedIsoelectric focusing (Pi-typing) and proteotyping by liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Background

Alpha-1 antitrypsin deficiency (AAT deficiency) is a genetic disorder associated with early-onset emphysema, unexplained liver disease, necrotizing panniculitis, bronchiectasis, and certain vasculitides. Diagnostic testing strategies include serum A1AT quantification, phenotyping by isoelectric focusing or proteotyping (Pi-typing), and genotype testing for common variants. Clinical practice guidelines from ATS/ERS inform when diagnostic testing is appropriate and form the basis for the reimbursable indications in this policy.