CurrentCommunity Health Plan WashingtonPolicy N/A

Concert Genetic Testing: Respiratory

Defines medical necessity criteria for genetic testing for respiratory/lung disorders (including SERPINA1 testing for alpha-1 antitrypsin deficiency, CFTR testing for cystic fibrosis, CFTR intron 9 polyT/TG analysis, and other rare genetically associated lung disorders), with referenced CPT/ICD codes for billing guidance and rationale references.

Policy Summary

PayerCommunity Health Plan Washington

PolicyConcert Genetic Testing: Respiratory

Policy CodePolicy N/A

Change TypeTitle change; criteria additions and updates

Effective Date

Next Review Date

Key ActionProvider must document the specific clinical findings that meet policy criteria (e.g., alpha-1 antitrypsin levels, sweat chloride values, newborn screen results, or symptoms from at least two organ systems) to support medical necessity for genetic testing.

SourceLink

POLICY UPDATE CHANGES

Semi-annual reviews updated criteria for SERPINA1 Common Variant Analysis to better align with current guidelines and expanded coverage.

New criteria for Donor-Derived Cell-free DNA for Lung Transplant Rejection and Emerging Evidence criteria for lung cancer diagnostic algorithmic tests were added in 2024/2025 versions.

3Primary tests with explicit criteria (SERPINA1, CFTR sequencing, CFTR intron 9)

4Other rare lung disorders listed

Coverage Summary

This policy, Concert Genetic Testing: Respiratory, defines medical necessity criteria for genetic testing to diagnose or confirm specified respiratory/lung genetic disorders (including SERPINA1 testing for alpha-1 antitrypsin deficiency, CFTR testing for cystic fibrosis, CFTR Intron 9 PolyT/TG analysis, and selected rare genetic lung disorders). Status: CURRENT. Last reviewed: 2025-11-25.

Thresholds

Alpha-1 antitrypsin level (nephelometry)Abnormally low < 120 mg/dL; Borderline 90-140 mg/dL

Sweat chloride testPositive >= 60 mmol/L; Inconclusive 30-59 mmol/L

Age for early-onset emphysemaEarly-onset defined as age 45 years or younger

Medical-Necessity Criteria

SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis - Medically Necessary

Considered medically necessary when meeting the related criteria:

ALL of the following

Member has any of the following
- Abnormally low (less than 120 mg/dL) or borderline (90-140 mg/dL) alpha-1 antitrypsin levels (as measured by nephelometry)
- Early-onset emphysema (45 years of age or younger)
- Emphysema in the absence of additional risk factor (e.g., smoking, occupational dust exposure)

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SERPINA1 Common Variant Analysis or Sequencing and/or Deletion/Duplication Analysis - Not supported

Current evidence does not support testing for other indications

ALL of the following

Any indications other than those listed in the medically necessary criteria

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Diagnostic CFTR Sequencing and/or Deletion/Duplication Analysis - Medically Necessary

Considered medically necessary to establish or confirm a diagnosis of cystic fibrosis when:

ANY of the following

Positive (>= 60 mmol/L) or inconclusive (30-59 mmol/L) sweat chloride test
Positive newborn screen for cystic fibrosis indicated by elevated immunoreactive trypsinogen
Symptoms from at least TWO different organ systems
- Sinus (e.g. chronic sinusitis, nasal polyps)
- Lower respiratory (e.g., bronchiectasis, chronic or recurrent lower airway infection, allergic bronchopulmonary aspergillosis)

Diagnostic CFTR Sequencing and/or Deletion/Duplication Analysis - Not supported

Current evidence does not support testing for other indications

ALL of the following

Any indications other than those listed in the medically necessary criteria

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CFTR Intron 9 PolyT and TG Analysis - Medically Necessary

Considered medically necessary when BOTH conditions are met:

ALL of the following

Member/enrollee has a diagnosis of cystic fibrosis
Member/enrollee has an R117H variant in the CFTR gene

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CFTR Intron 9 PolyT and TG Analysis - Not supported

Current evidence does not support testing for other indications

ALL of the following

Any indications other than those listed in the medically necessary criteria

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Other Covered Lung Disorders - Medically Necessary (select rare disorders)

Genetic testing to establish or confirm diagnoses for selected rare lung disorders with known genetic associations is considered medically necessary when clinical features consistent with the disorder are present:

ANY of the following

Familial Pulmonary Fibrosis
Primary Ciliary Dyskinesia
Pulmonary lymphangioleiomyomatosis (LAM)
Pulmonary alveolar proteinosis (PAP)

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Other Covered Lung Disorders - Not supported

Current evidence does not support genetic testing for other lung disorders not discussed; evaluate per General Approach to Laboratory Testing policy

ALL of the following

Lung disorders not specifically covered in this policy or other medical policy

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Coding

SERPINA1 - Common billing codes referencedmixed

81332	SERPINA1 common variant analysis / sequencing (example)
81479	Unlisted molecular pathology procedure (example for full gene sequencing)
E88.01	Alpha-1 antitrypsin deficiency (ICD-10-CM)

Diagnostic CFTR - Common billing codes referencedmixed

81223	CFTR sequencing and/or deletion/duplication analysis (example)
81222	Targeted CFTR analysis (example)
81224	CFTR intron 9 polyT and TG analysis (example)
E84.0-9	Cystic fibrosis codes (ICD-10-CM range)
P09	Other and unspecified diseases of newborn (ICD-10-CM example used)
Q55.4	Congenital absence of vas deferens (ICD-10-CM example)
R94.8	Abnormal results of other function studies (ICD-10-CM example)
Z13	Special screening examinations (ICD-10-CM example)
Z31	Encounter for procreative management (ICD-10-CM example)
Z34	Encounter for supervision of normal pregnancy (ICD-10-CM example)

1–10 of 13

1/2

Other Covered Lung Disorders - Panel codes referencedCPT

81400	Molecular pathology procedure level 1 (example panels)
81401	Molecular pathology procedure level 2 (example panels)
81402	Molecular pathology procedure level 3
81403	Molecular pathology procedure level 4
81404	Molecular pathology procedure level 5
81405	Molecular pathology procedure level 6
81406	Molecular pathology procedure level 7
81407	Molecular pathology procedure level 8
81408	Molecular pathology procedure level 9

Provider Actions

Documentation Required

Document clinical indication and test justification

Provider must document the specific clinical findings that meet policy criteria (e.g., alpha-1 antitrypsin levels, sweat chloride values, newborn screen results, or symptoms from at least two organ systems) to support medical necessity for genetic testing.

Alpha-1 antitrypsin levels (e.g., abnormally low < 120 mg/dL or borderline 90-140 mg/dL)
Sweat chloride values (positive ≥ 60 mmol/L; inconclusive 30–59 mmol/L)
Newborn screen results indicating elevated immunoreactive trypsinogen
Documented symptoms from at least two organ systems (examples: sinus and lower respiratory; GI and reproductive)

Prior Authorization

Prior authorization implied via health plan policy

Background and Evidence

Scope: Provides criteria for genetic testing to establish or confirm respiratory genetic disorders (examples include SERPINA1 analyses for AAT deficiency, Diagnostic CFTR sequencing/deletion-duplication and CFTR Intron 9 PolyT/TG analysis, and testing for select rare lung disorders). The policy cross-references the General Approach to Laboratory Testing for known familial variant testing and other respiratory testing not specifically addressed here. The policy notes that the listed tests, CPT codes, and ICD codes are not comprehensive and are provided for informational/billing guidance only.

Evidence sources

Guideline sourcesCystic Fibrosis Foundation 2017; ACMG technical standards 2020; ATS/ERS 2003

Definitions

AATAlpha-1 antitrypsin

CFTRCystic fibrosis transmembrane conductance regulator gene

Revision History

12/25revised (material)Latest

Policy name changed from 'Concert Genetic Testing: Lung Disorders' to 'Concert Genetic Testing: Respiratory' and incorporated criteria for CFTR Intron 9 PolyT and TG Analysis and Diagnostic CFTR Sequencing that were previously in another policy. 'Investigational' statements changed to 'current evidence does not support.' Reference table, rationale, background, coding, and references updated.

04/24revised (material)

Semi-annual review: SERPINA1 Common Variant Analysis criteria updated to better align with current guidelines and expanded coverage; Known familial variant criteria moved to the General Approach to Laboratory Testing policy. Coding, reference table, background and references updated.

11/24