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The CPT® Code 81332 refers to a molecular genetic test that analyzes the SERPINA1 gene, which is crucial for producing the protein alpha-1 antitrypsin (AAT). This protein functions as a serine protease inhibitor, meaning it helps regulate chemical reactions in the body by inhibiting specific enzymes. AAT is primarily synthesized in the liver and is transported through the bloodstream to the lungs, where it plays a vital role in protecting lung tissue from damage caused by enzymes such as neutrophil elastase. In cases where there is a deficiency of AAT, neutrophil elastase can become overly active, leading to the destruction of alveoli, the small air sacs in the lungs, which can result in emphysema. The SERPINA1 gene is located on chromosome 14 and has been associated with over 120 identified mutations, most of which alter the gene's molecular structure by substituting one amino acid for another. The two most prevalent variants of this gene are the 'S' allele, which alters glutamic acid to valine at codon 264, and the 'Z' allele, commonly found in individuals of North Western European descent, which changes glutamic acid to lysine at position 342. In addition to causing AAT deficiency, certain mutations can lead to abnormal binding of AAT, resulting in a large molecule that accumulates in the liver, potentially causing liver damage, while also leaving the lungs vulnerable to damage from neutrophil elastase. Alternatively, some mutations may produce a smaller AAT molecule that is rapidly degraded by the liver, preventing it from reaching the lungs and providing necessary protection, thereby increasing the risk of emphysema. Molecular genetic testing for SERPINA1 is indicated for individuals exhibiting symptoms related to alpha-1 antitrypsin deficiency or those with a family history of the condition.
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The molecular genetic testing for SERPINA1 is indicated for individuals who exhibit symptoms associated with alpha-1 antitrypsin deficiency or have a family history of the disorder. This testing is crucial for diagnosing conditions related to AAT deficiency, which can lead to significant lung and liver damage.
The procedure for molecular genetic testing of the SERPINA1 gene involves several key steps to ensure accurate identification of common variants associated with alpha-1 antitrypsin deficiency.
After the molecular genetic testing for SERPINA1 is completed, patients may receive counseling regarding the results, especially if a mutation is identified. This counseling can include information about the implications of the findings, potential health risks, and recommendations for monitoring and management of any associated conditions. Follow-up care may involve additional testing or referrals to specialists, such as pulmonologists or hepatologists, depending on the patient's clinical presentation and family history. It is essential for patients to understand the significance of their results and the importance of ongoing health management related to alpha-1 antitrypsin deficiency.
| Short Descr | SERPINA1 GENE | Medium Descr | SERPINA1 GENE ANALYSIS COMMON VARIANTS | Long Descr | SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z) | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | GW | Service not related to the hospice patient's terminal condition | GZ | Item or service expected to be denied as not reasonable and necessary | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service |
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| 2012-01-01 | Added | Added |
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