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The CPT® Code 81448 pertains to a genomic sequence analysis panel specifically designed for hereditary peripheral neuropathies, which include conditions such as Charcot-Marie-Tooth disease and spastic paraplegia. This analysis involves the sequencing of at least five genes that are known to be associated with these neuropathies, including but not limited to BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, and SPTLC1. Hereditary peripheral neuropathies represent the most frequently inherited neuromuscular disorders, categorized into two main types: primary axonopathies, which affect the axon of the nerve, and primary myelinopathies, which impact the myelin sheath surrounding the nerve fibers. Further classification of these neuropathies can be made based on the type of nerve fibers involved, distinguishing between sensory and motor fibers, as well as large and small nerve fibers. The distribution of the affected nerves can also be characterized by symmetry and length dependency. Symptoms associated with these conditions can vary widely, including progressive distal muscle weakness, paresthesia, loss of sensation, foot drop, and decreased deep tendon reflexes. In cases where only motor nerves are affected, symptoms may include muscle weakness and atrophy, absent reflexes, and foot deformities. Sensory and autonomic neuropathies can lead to a range of symptoms such as diminished sensation, excessive sweating, and gastrointestinal issues. The genomic analysis provided by this test is crucial for establishing a genetic basis for the observed symptoms, confirming inheritance patterns, identifying at-risk pregnancies, and facilitating accurate genetic counseling and family planning. The testing process involves obtaining a blood sample, which is then analyzed using Next Generation Sequencing (NGS) techniques, with subsequent confirmation through Sanger Sequencing to detect any mutations present.
© Copyright 2025 Coding Ahead. All rights reserved.
The genomic sequence analysis panel represented by CPT® Code 81448 is indicated for the evaluation of hereditary peripheral neuropathies. This includes conditions such as:
The procedure for CPT® Code 81448 involves several key steps to ensure accurate genomic analysis of hereditary peripheral neuropathies:
After the genomic sequence analysis is completed, the patient may receive genetic counseling based on the results. This counseling can help in understanding the implications of the findings, including the potential for hereditary neuropathies in family members and the options available for at-risk pregnancies. The results may also guide further diagnostic testing or management strategies for the patient. It is important for patients to discuss the findings with their healthcare provider to understand the next steps in their care and any necessary follow-up actions.
| Short Descr | HRDTRY PERPH NEURPHY PANEL | Medium Descr | HEREDITARY PERIPHERAL NEUROPATHY GEN SEQ PNL | Long Descr | Hereditary peripheral neuropathies (eg, Charcot-Marie-Tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy-related genes (eg, BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1) | 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) | none | 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | 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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| 2018-01-01 | Added | Code Added. |
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