CPT® Code 81430

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

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.