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The CPT® Code 81430 pertains to a genomic sequence analysis panel specifically designed for the evaluation of hearing loss (HL). This molecular genetic testing is crucial for identifying genetic variants associated with various forms of hearing loss, including nonsyndromic hearing loss, which occurs without any visible anomalies, and syndromic hearing loss, such as that seen in Usher syndrome and Pendred syndrome, which may involve malformations of the external ear or other organs. The procedure involves sequencing at least 60 genes, including key genes such as CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1. Identifying these genetic variants is essential for understanding the etiology of hearing loss in both children and adults, as it can provide valuable insights that assist otologists in determining appropriate treatment options. Hearing loss can manifest in various forms, including conductive, sensorineural, mixed, or central types. Conductive hearing loss is characterized by anomalies in the external ear or ossicles of the middle ear, while sensorineural hearing loss is associated with malformations of the inner ear or cochlea. Mixed hearing loss combines elements of both conductive and sensorineural types, and central hearing loss involves dysfunction at the level of the 8th cranial nerve, auditory brainstem, or cerebral cortex. The genetic loci commonly linked to hereditary hearing loss include DFNA3 and DFNB1, which are located on the q arm of chromosome 13. DFNA3 is typically associated with an autosomal dominant mutation in the GJB2 or GJB6 genes, whereas DFNB1 is predominantly autosomal recessive, with mutations in the GJB2 gene occurring in 99% of cases, and less than 1% of cases involving mutations in the GJB6 gene. There are over 2000 pathogenic variants related to deafness across approximately 130 genes, including 18 pathogenic copy number variants (CNVs) that may result from insertions, deletions, or recombinations affecting dose-sensitive genes. The STRC gene, which encodes stereocilin, is particularly notable for harboring pathogenic CNVs that are often inherited in an autosomal recessive manner. The testing process involves analyzing DNA extracted from a blood sample using next-generation sequencing techniques.
© Copyright 2025 Coding Ahead. All rights reserved.
The genomic sequence analysis panel represented by CPT® Code 81430 is indicated for the evaluation of various forms of hearing loss, particularly in the following scenarios:
The procedure for CPT® Code 81430 involves several critical steps to ensure accurate genomic analysis:
After the genomic sequence analysis is completed, the following post-procedure considerations are important:
Patients may receive genetic counseling based on the results of the test. This counseling can help them understand the implications of any identified genetic variants, including potential risks for family members and options for management or treatment. Additionally, follow-up appointments may be scheduled to discuss the results in detail and to explore further diagnostic or therapeutic options if necessary. It is also important for healthcare providers to document the results and any subsequent actions taken in the patient's medical record to ensure continuity of care.
| Short Descr | HEARING LOSS SEQUENCE ANALYS | Medium Descr | HEARING LOSS GENOMIC SEQUENCE ANALYSIS 60 GENES | Long Descr | Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including CDH23, CLRN1, GJB2, GPR98, MTRNR1, MYO7A, MYO15A, PCDH15, OTOF, SLC26A4, TMC1, TMPRSS3, USH1C, USH1G, USH2A, and WFS1 | 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 |
| XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 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. | 91 | Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient. | GW | Service not related to the hospice patient's terminal condition |
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| 2015-01-01 | Added | Added |
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