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The CPT® Code 81431 pertains to molecular genetic testing specifically aimed at identifying genetic factors associated with hearing loss (HL). This testing is crucial for diagnosing various forms of HL, 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 identification of genetic variants through this testing can provide valuable insights into the underlying causes of HL in both children and adults, thereby assisting otologists in determining appropriate treatment options. Hearing loss can manifest in several forms: conductive, sensorineural, mixed, or central. Conductive HL is characterized by anomalies in the external ear or the ossicles of the middle ear, while sensorineural HL is associated with malformations of the inner ear or cochlea. Mixed HL combines elements of both conductive and sensorineural types, and central HL results from damage or dysfunction in the auditory pathways, including the 8th cranial nerve, auditory brain stem, or cerebral cortex. The genetic loci commonly linked to hereditary HL include DFNA3 and DFNB1, with DFNA3 often resulting from an autosomal dominant mutation in the GJB2 or GJB6 genes, and DFNB1 typically arising from an autosomal recessive mutation in the GJB2 gene. Notably, pathogenic copy number variants (CNVs) associated with HL can include insertions, deletions, or recombinations, with the STRC gene being a significant contributor to autosomal recessive HL. The testing process involves analyzing DNA extracted from a blood sample using next-generation sequencing techniques, which allows for comprehensive evaluation of the genetic factors involved in hearing loss.
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The molecular genetic testing represented by CPT® Code 81431 is indicated for the evaluation of individuals suspected of having hearing loss due to genetic factors. The specific indications include:
The procedure for CPT® Code 81431 involves several critical steps to ensure accurate genetic analysis for hearing loss. The steps include:
After the completion of the genetic testing procedure, the patient may expect to receive results that provide insights into the genetic basis of their hearing loss. The interpretation of these results is crucial for guiding further management and treatment options. It is important for healthcare providers to discuss the findings with the patient, including the implications of any identified genetic variants. Follow-up care may involve referrals to specialists, such as audiologists or otologists, for further evaluation and management of hearing loss based on the genetic findings. Additionally, genetic counseling may be recommended to help the patient and their family understand the results and the potential for hereditary transmission of hearing loss.
| Short Descr | HEARING LOSS DUP/DEL ANALYS | Medium Descr | HEARING LOSS DUP/DEL ANALYSIS | Long Descr | Hearing loss (eg, nonsyndromic hearing loss, Usher syndrome, Pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes | 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 |
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| 2015-01-01 | Added | Added |
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