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Molecular genetic testing, specifically CPT® Code 81440, is utilized to identify disorders associated with nuclear encoded mitochondrial genes that predominantly present with symptoms affecting the central nervous system (CNS) and skeletal muscles. These inherited mitochondrial diseases can manifest at any age and may exhibit a range of symptoms affecting the neuromuscular system, cardiovascular system, and endocrine functions, with varying degrees of severity. The nuclear genes in question are responsible for encoding numerous proteins that play critical roles in mitochondrial oxidative phosphorylation (OXPHOS). This includes various subunits of the respiratory chain complex, proteins essential for the assembly and maintenance of the OXPHOS complex, and those involved in the replication, transcription, translation, and repair of mitochondrial DNA (mtDNA). Additionally, these genes encode proteins that are vital for mitochondrial protein synthesis and dynamics. Disorders linked to mutations in nuclear DNA (nDNA) can lead to a variety of conditions, such as Leigh syndrome and paraganglioma, which are associated with OXPHOS dysfunctions. Other examples include progressive external ophthalmoplegia (PEG) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), which arise from defects in nDNA-encoded mitochondrial proteins that maintain mtDNA integrity. Furthermore, conditions like Friedreich ataxia and hereditary spastic paraplegia are also related to mitochondrial disorders that adversely affect the OXPHOS system. The testing process involves analyzing whole blood samples through massively parallel sequencing techniques. The CPT® Code 81440 specifically denotes the genomic sequence panel analysis that encompasses at least 100 genes, including notable ones such as BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP.
© Copyright 2025 Coding Ahead. All rights reserved.
The molecular genetic testing represented by CPT® Code 81440 is indicated for the evaluation of patients who exhibit symptoms related to nuclear encoded mitochondrial gene disorders. These indications include:
The procedure for CPT® Code 81440 involves several critical steps to ensure accurate genomic analysis. The process begins with the collection of a whole blood sample from the patient, which serves as the source of DNA for testing. Following sample collection, the DNA is extracted and prepared for sequencing. The next step involves massively parallel sequencing, a high-throughput method that allows for the simultaneous analysis of multiple genes. This technique is essential for identifying mutations across at least 100 nuclear encoded mitochondrial genes. The specific genes included in this analysis are crucial for understanding the patient's condition and may include BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP. After sequencing, bioinformatics analysis is performed to interpret the data, identifying any pathogenic variants that may be responsible for the patient's symptoms. Finally, the results are compiled into a report that is provided to the healthcare provider for further clinical decision-making.
Post-procedure care following the molecular genetic testing for CPT® Code 81440 typically involves the interpretation of the test results by the healthcare provider. The provider will discuss the findings with the patient, including any identified genetic mutations and their potential implications for diagnosis, treatment, and management of symptoms. Depending on the results, further testing or referrals to specialists may be necessary. Additionally, genetic counseling may be recommended to help the patient and their family understand the results and the potential hereditary nature of mitochondrial disorders. It is important for patients to follow up with their healthcare provider to discuss any additional steps or interventions that may be warranted based on the test outcomes.
| Short Descr | MITOCHONDRIAL GENE | Medium Descr | NUCLEAR MITOCHONDRIAL 100 GENE GENOMIC SEQ | Long Descr | Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP | 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. | 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 | 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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