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The CPT® Code 81465 refers to a comprehensive molecular genetic testing procedure that focuses on the whole mitochondrial genome to identify large deletion mutations in mitochondrial DNA (mtDNA). The mitochondrial genome is a circular DNA structure that contains 37 essential genes, all of which play a critical role in mitochondrial function. These genes can be affected by various types of mutations, including point mutations, deletions, duplications, or complex rearrangements. Mitochondrial disorders, which arise from abnormalities in mtDNA, exhibit a heterogeneous nature and are inherited through the maternal line. These disorders predominantly impact tissues with high energy demands, such as muscles and nerves, and can manifest as multi-systemic issues, particularly in pediatric populations. The clinical presentation of mitochondrial disorders can vary significantly among family members who share the same mutation, highlighting the complexity of these conditions. Unlike nuclear DNA (nDNA), where mutations can exist in a limited number of copies, mtDNA mutations can occur in varying proportions across the total organelle, a phenomenon known as heteroplasmy. The severity of symptoms associated with mitochondrial diseases is closely linked to the degree of heteroplasmy; a higher degree of heteroplasmy typically correlates with more severe clinical manifestations. Notable disorders associated with large deletion mutations in mtDNA include Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO). The testing process involves analyzing samples from blood, skin, or other tissues to detect large deletion mutations in the whole mitochondrial genome. This is accomplished through gel electrophoresis, followed by the localization of the identified deletions using next-generation sequencing (NGS).
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The procedure associated with CPT® Code 81465 is indicated for the evaluation of specific mitochondrial disorders characterized by large deletion mutations in mitochondrial DNA. The following conditions are explicitly mentioned as indications for this testing:
The procedure for CPT® Code 81465 involves several critical steps to ensure accurate detection of large deletion mutations in the mitochondrial genome. The following procedural steps are outlined:
After the completion of the mitochondrial genome large deletion analysis, the results are interpreted by a qualified healthcare professional. The findings may provide critical insights into the diagnosis of mitochondrial disorders, guiding further clinical management and treatment options. Patients may require follow-up consultations to discuss the implications of the test results, potential genetic counseling, and any necessary interventions based on the identified mutations. Additionally, the degree of heteroplasmy detected may influence the severity of the condition and the approach to patient care.
| Short Descr | WHOLE MITOCHONDRIAL GENOME | Medium Descr | WHOLE MITOCHONDRIAL GENOME ANALYSIS PANEL | Long Descr | Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed | 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 |
| 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. | GW | Service not related to the hospice patient's terminal condition | 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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| 2015-01-01 | Added | Added |
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