ModifiedBlue Cross Blue Shield - OklahomaPolicy CPCPLAB061

Testing for Alpha-1 Antitrypsin Deficiency

Defines BCBSOK reimbursement criteria for laboratory testing (serum AAT quantification, genotyping, phenotyping/proteotyping) for suspected alpha-1 antitrypsin deficiency and identifies situations where testing is reimbursable or not.

Policy Summary

PayerBlue Cross Blue Shield - Oklahoma

PolicyTesting for Alpha-1 Antitrypsin Deficiency

Policy CodePolicy CPCPLAB061

Change TypeMaterial updates to coverage criteria and indications

Effective DateOct 30, 2024

Next Review Date

Key ActionLimit reimbursement for serum AAT quantification and phenotyping/proteotyping to once per lifetime for specified indications.

SourceLink

POLICY UPDATE CHANGES

Added 'once per lifetime' to reimbursement criterion allowing serum AAT quantification and phenotyping/proteotyping.

Expanded examples for 'unexplained liver disease' to include chronic hepatitis with or without cirrhosis, chronically elevated aminotransferase levels, portal hypertension, and primary liver cancer.

Added neonatal cholestasis as a reimbursable indication.

Document updated with literature review and references were revised.

oncefrequency limit for reimbursable AAT testing

8listed clinical indications

4procedure codes listed

Trek Health ingests and normalizes Transparency in Coverage data and payer policy updates to give provider organizations a clear view of how commercial reimbursement behaves across markets, payers, and services. Our platform transforms raw payer disclosures into structured intelligence that supports contract evaluation, payer negotiations, and service line strategy. By combining market benchmarks with ongoing policy visibility, Trek helps teams identify variability, risk, and opportunity in commercial reimbursement. The result is faster insight, stronger negotiating positions, and more informed financial decisions.

4example liver conditions

Coverage Criteria for Alpha-1 Antitrypsin Testing

Reimbursable indications — Serum quantification and phenotyping/proteotyping

Covered when ALL of the following are met:

ALL of the following

ONE of
- Symptomatic adults with pulmonary disease: Individuals 18 years of age or older with emphysema, COPD, or asthma
- Unexplained liver disease: Individuals with unexplained liver disease (e.g., chronic hepatitis with or without cirrhosis, chronically elevated aminotransferase levels, portal hypertension, primary liver cancer)
- Persistent obstruction without risk factors: Individuals with persistent obstruction on pulmonary function tests without identifiable risk factors (e.g., cigarette smoking, occupational exposure)
- Necrotizing panniculitis: Individuals 18 years of age or older with necrotizing panniculitis
- Family member: Siblings of an individual with known alpha-1 antitrypsin (AAT) deficiency
- C-ANCA positive vasculitis: Individuals with anti-proteinase three-positive (C-ANCA) vasculitis
- Bronchiectasis without etiology: Individuals with bronchiectasis without evident etiology
- Neonatal cholestasis: Individuals with neonatal cholestasis
Testing limited to: Serum quantification of alpha-1 antitrypsin (AAT) protein and AAT phenotyping or AAT proteotyping may be reimbursable once per lifetime under this policy
Per policy update, 'once per lifetime' limit applied to reimbursable AAT quantification and phenotyping/proteotyping
Additional phenotyping indication: Isoelectric focusing/phenotyping may be reimbursable for individuals who have negative genotype results for common variants or discordant results between AAT serum levels and proteotype when clinical suspicion remains
Not reimbursable: For all other situations not described above, testing for alpha-1 antitrypsin (AAT) deficiency is not reimbursable

Reimbursable Indications — Alpha-1 antitrypsin deficiency testing

Testing for alpha-1 antitrypsin deficiency may be reimbursable when clinically indicated under the following conditions (note: serum AAT quantification and phenotyping/proteotyping are limited to once per lifetime under this policy):

ALL of the following

Suspected AAT deficiency: Serum quantification of AAT protein and AAT phenotyping or proteotyping may be reimbursable once per lifetime (see Note 1)
Unexplained liver disease: Examples include chronic hepatitis with or without cirrhosis, chronically elevated aminotransferase levels, portal hypertension, primary liver cancer
Neonatal cholestasis: Included as a reimbursable indication

Operational limit: Reimbursement for serum AAT quantification and AAT phenotyping/proteotyping is limited to a single occurrence per lifetime

Policy Update History added 'once per lifetime' to this reimbursement criterion

Procedure and Coding Information

Procedure codes listedCPT

82103	Alpha-1 antitrypsin
82104	Alpha-1 antitrypsin; quantitation (if distinct from 82103 per coding guidance)
82542	Alpha-1 antitrypsin phenotyping
83789	Special chemistry procedure (may be used for proteotyping/LC-MS/MS testing)

AAT testing codesmixed

No codes listed

Lifetime limit (summary)

Lifetime limitOnce per lifetime for reimbursable serum AAT quantification and AAT phenotyping/proteotyping in specified indications

Applies toIndividuals suspected of AAT deficiency when meeting listed clinical indications (see policy)

Operational changePolicy update added explicit 'once per lifetime' restriction to reimbursement criterion

Lifetime limit (operational entry)

Numeric lifetime limit1 (one reimbursable occurrence per lifetime)

ScopeCovers serum AAT quantification and AAT phenotyping/proteotyping when criteria met

Provider Documentation, Billing and Reimbursement Rules

Documentation Required

Documentation and Claim Review

Providers are responsible for submission of accurate documentation of services performed. Providers may be asked to submit additional documentation to support medical necessity and coding. Claims are subject to review against benefit terms, provider contract language, medical and clinical payment policies, coding software logic, and industry coding guidelines. Upon request, providers should furnish supporting records (e.g., medical records, lab reports, genetic test reports).

Submit accurate documentation and valid code combinations from HIPAA-approved code sets.
Be prepared to provide additional documentation upon request to support services billed.
Claims are subject to review and may be denied or adjusted if documentation or coding is insufficient.

Billing Rule

Definitions and Testing Method Notes

AAT phenotyping — technique

TechniqueIsoelectric focusing is the recommended method for AAT phenotyping

Use casePhenotyping may be reimbursable when genotype is negative for common variants or discordant with serum levels

Reference locationSee Note 1 for recommended method details

AAT proteotyping — technique

TechniqueAAT proteotyping for Z and S alleles should be performed using liquid chromatography-tandem mass spectrometry (LC-MS/MS)

Alleles specifiedZ and S alleles referenced explicitly for proteotyping

Terminology

Policy Summary

PayerBlue Cross Blue Shield - Oklahoma

PolicyTesting for Alpha-1 Antitrypsin Deficiency

Policy CodePolicy CPCPLAB061

Change TypeMaterial updates to coverage criteria and indications

Effective DateOct 30, 2024

Next Review Date

Key ActionLimit reimbursement for serum AAT quantification and phenotyping/proteotyping to once per lifetime for specified indications.

SourceLink

On This Page

Effective date of changeAdded 10/30/2024 as noted in Policy Update History

Reimbursement Rule — Once per Lifetime

Reimbursement is allowed once per lifetime for serum alpha-1 antitrypsin (AAT) quantification and AAT phenotyping or proteotyping when performed for the specified clinical indications below. Ensure documentation supports the indication and that testing has not been previously reimbursed for the member.

Once-per-lifetime reimbursement applies to serum AAT quantification and AAT phenotyping/proteotyping for individuals suspected of having AAT deficiency when performed in one of the listed clinical situations.
Examples of covered clinical situations include: documented emphysema or COPD in individuals under age 45; unexplained liver disease (e.g., chronic hepatitis ± cirrhosis, chronically elevated aminotransferases, portal hypertension, primary liver cancer); family history of AAT deficiency; neonatal cholestasis; or other situations meeting clinical criteria.
Providers must document the clinical indication in the medical record and confirm prior testing history to support once-per-lifetime billing.

Proteotyping also referred to as Pityping or protease inhibitor typing in Note 1

Reimbursement criterion (brief)

DefinitionReimbursement information: serum AAT quantification and AAT phenotyping/proteotyping may be reimbursable once per lifetime when clinical indications are met

Key limitationLimited to one lifetime occurrence under this policy

Examples of indicationsIncludes suspected AAT deficiency, unexplained liver disease, neonatal cholestasis, pulmonary and dermatologic presentations

Neonatal cholestasis — policy note

Reimbursable indicationNeonatal cholestasis is listed as a reimbursable indication for AAT testing

Clinical relevanceIdentified as a risk factor for earlier severe liver disease in Alpha-1 AT deficiency (references cited)

Policy additionNeonatal cholestasis was added to the list of indications in the policy update history