Concert Genetics Genetic Testing: Lung Disorders Form

Centene Corporation

Concert Genetics Genetic Testing: Lung Disorders  
V2.2024  
Date of Last Revision: 04/24  

[Revision log](#)  
[Coding Implications](#)  

# CONCERT GENETICS GENETIC TESTING: LUNG DISORDERS  

See [Important Reminder](#) at the end of this policy for important regulatory and legal information.  

## OVERVIEW  

One of the most common forms of inherited lung disorders is alpha-1 antitrypsin deficiency (AATD). AATD is an autosomal recessive genetic disorder that results in decreased production of the alpha-1 antitrypsin (AAT) protein, or production of abnormal types of the protein that are functionally deficient. Individuals with AATD have an increased risk to develop lung and liver disease. Genetic testing to diagnose AATD aids in directing proper treatment and identifying at-risk family members.  

## POLICY REFERENCE TABLE  

### Coding Implications  

This clinical policy references Current Procedural Terminology (CPT®). CPT is a registered trademark of the American Medical Association. All CPT codes and descriptions are copyrighted 2023, American Medical Association. All rights reserved. CPT codes and CPT descriptions are from the current manuals and those included herein are not intended to be all-inclusive and are included for informational purposes only. Codes referenced in this clinical policy are for informational purposes only. Inclusion or exclusion of any codes does not guarantee coverage. Providers should reference the most up-to-date sources of professional coding guidance prior to the submission of claims for reimbursement of covered services.  

The tests and associated laboratories and CPT codes contained within this document serve only as examples to help users navigate claims and corresponding criteria; as such, they are not comprehensive and are not a guarantee of coverage or non-coverage. Please see the [Concert Genetics Platform](#) for a comprehensive list of registered tests.  

| Criteria Sections | Example Tests (Labs) | Common CPT Codes | Common ICD Codes | Ref |
|-------------------|---------------------|------------------|-----------------|-----|
| Alpha-1 Antitrypsin Deficiency | | | | |
| SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis | Alpha-1 Antitrypsin (AAT) Mutation Analysis (Quest Diagnostics) | 81332 | E88.01 | 1 |
| | SERPINA1 Full Gene Sequencing and Deletion/Duplication (Invitae) | 81479 | | |
| Other Covered Lung Disorders | | | | |
| Other Covered Lung Disorders | See list below | 81400-81408 | | 2, 3, 4 |

## OTHER RELATED POLICIES  

This policy document provides criteria for Genetic Testing for Lung Disorders. Please refer to:  

- Genetic Testing: Multisystem Inherited Disorders, Intellectual Disability, and Developmental Delay for criteria related to diagnostic testing for cystic fibrosis and other multisystem inherited disorders.  
- Genetic Testing: General Approach to Genetic and Molecular Testing for criteria related to genetic testing for lung disorders and disease that are not specifically discussed in this or another non-general policy.  

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## CRITERIA  

It is the policy of health plans affiliated with Centene Corporation® that the specific genetic testing noted below is **medically necessary** when meeting the related criteria:  

## ALPHA-1 ANTITRYPSIN DEFICIENCY  

### SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis  

  

II. SERPINA1 common variant analysis (81332) or sequencing and/or deletion/duplication analysis (81479) to establish a diagnosis of alpha-1 antitrypsin deficiency is considered **investigational** for all other indications.  

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## OTHER COVERED LUNG DISORDERS  

The following is a list of conditions that have a known genetic association. Due to their relative rareness, it may be appropriate to cover these genetic tests to establish or confirm a diagnosis.  

  

*Clinical features for a specific disorder may be outlined in resources such as GeneReviews, OMIM, National Library of Medicine, Genetics Home Reference, or other scholarly source.  

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## BACKGROUND AND RATIONALE  

### SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis  

American Thoracic Society and European Respiratory Society  

The American Thoracic Society and European Respiratory Society published a joint statement on the diagnosis and management of individuals with alpha-1 antitrypsin deficiency (2003) which provided recommendations for diagnostic testing.  

A normal range of plasma alpha-1 antitrypsin (measured via nephelometry) is 83/120 - 200/220 mg/dL. Individuals with borderline normal levels of plasma alpha-1 antitrypsin (90-140 mg/dL) or with abnormally low levels (below 120 mg/dL) should be evaluated for alpha-1 antitrypsin deficiency. (p. 826 and 827)  

“The following features should prompt suspicion by physicians that their patient may be more likely to have AAT deficiency:  

- Early-onset emphysema (age of 45 years or less)  
- Emphysema in the absence of a recognized risk factor (smoking, occupational dust exposure, etc.)  
- Emphysema with prominent basilar hyperlucency  
- Otherwise unexplained liver disease  
- Necrotizing panniculitis  
- Anti-proteinase 3-positive vasculitis (C-ANCA [anti-neutrophil cytoplasmic antibody]-positive vasculitis)  

- Family history of any of the following: emphysema, bronchiectasis, liver disease, or panniculitis  
- Bronchiectasis without evident etiology…” (p. 820)  

The statement also recommended that individuals with a sibling with AAT deficiency should also be offered genetic testing. (p. 827)  

| Reviews, Revisions, and Approvals | Revision Date | Approval Date |
|----------------------------------|---------------|---------------|
| Policy developed. | 03/23 | 03/23 |
| Semi-annual review. Updated title to reflect V1.2024 version. Overview, coding, reference-table, background and references updated. Throughout policy: replaced “coverage criteria” with “criteria”. For Policy Reference Table: under “SERPINA1 Common Variant.” added “E88.01”. For Background and Rationale: under “SERPINA1 Known Familial Variant Analysis: replaced “inheritance patterns” with “genetic testing”. | 10/23 | 10/23 |
| Semi-annual review. Updated title to reflect V2.2024 version. In SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis criteria, updated criteria to better align with current guidelines, allowing for an expansion to coverage. In SERPINA1 Known Familial Variant Analysis criteria, moved criteria to policy “Genetic Testing: General Approach to Genetic and Molecular Testing” to consolidate criteria for known familial variant tests. Minor rewording for clarity throughout. Coding, reference-table, background and references updated. | 04/24 | 04/24 |

  

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## Important Reminder  

This clinical policy has been developed by appropriately experienced and licensed health care professionals based on a review and consideration of currently available generally accepted standards of medical practice; peer-reviewed medical literature; government agency/program approval status; evidence-based guidelines and positions of leading national health professional organizations; views of physicians practicing in relevant clinical areas affected by this clinical policy; and other available clinical information. The Health Plan makes no representations and accepts no liability with respect to the content of any external information used or relied upon in developing this clinical policy. This clinical policy is consistent with standards of medical practice current at the time that this clinical policy was approved. “Health Plan” means a health plan that has adopted this clinical policy and that is operated or administered, in whole or in part, by Centene Management Company, LLC, or any of such health plan’s affiliates, as applicable.  

The purpose of this clinical policy is to provide a guide to medical necessity, which is a component of the guidelines used to assist in making coverage decisions and administering benefits. It does not constitute a contract or guarantee regarding payment or results. Coverage decisions and the administration of benefits are subject to all terms, conditions, exclusions, and limitations of the coverage documents (e.g., evidence of coverage, certificate of coverage, policy, contract of insurance, etc.), as well as to state and federal requirements and applicable Health Plan-level administrative policies and procedures.  

This clinical policy is effective as of the date determined by the Health Plan. The date of posting may not be the effective date of this clinical policy. This clinical policy may be subject to applicable legal and regulatory requirements relating to provider notification. If there is a discrepancy between the effective date of this clinical policy and any applicable legal or regulatory requirement, the requirements of law and regulation shall govern. The Health Plan retains the right to change, amend or withdraw this clinical policy, and additional clinical policies may be developed and adopted as needed, at any time.  

This clinical policy does not constitute medical advice, medical treatment, or medical care. It is not intended to dictate to providers how to practice medicine. Providers are expected to exercise professional medical judgment in providing the most appropriate care and are solely responsible for the medical advice and treatment of member/enrollees. This clinical policy is not intended to recommend treatment for member/enrollees. Member/enrollees should consult with their treating physician in connection with diagnosis and treatment decisions.  

Providers referred to in this clinical policy are independent contractors who exercise independent judgment and over whom the Health Plan has no control or right of control. Providers are not agents or employees of the Health Plan.  

This clinical policy is the property of the Health Plan. Unauthorized copying, use, and distribution of this clinical policy or any information contained herein are strictly prohibited. Providers, member/enrollees, and their representatives are bound to the terms and conditions expressed herein through the terms of their contracts. Where no such contract exists, providers, member/enrollees and their representatives agree to be bound by such terms and conditions by providing services to member/enrollees and/or submitting claims for payment for such services.  

**Note:** For Medicaid member/enrollees, when state Medicaid coverage provisions conflict with the coverage provisions in this clinical policy, state Medicaid coverage provisions take precedence. Please refer to the state Medicaid manual for any coverage provisions pertaining to this clinical policy.  

**Note:** For Medicare member/enrollees, to ensure consistency with the Medicare National Coverage Determinations (NCD) and Local Coverage Determinations (LCD), all applicable NCDs and LCDs and Medicare Coverage Articles should be reviewed prior to applying the criteria set forth in this clinical policy. Refer to the CMS website at http://www.cms.gov for additional information.  

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