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BETA v.3.0

2025 CPT code 81254

GJB6 (gap junction protein, beta 6, 30kDa, connexin 30) (e.g., nonsyndromic hearing loss) gene analysis, common variants (e.g., 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)])

This code includes all analytical steps involved in the test. If pre-analytic procedures like microdissection (88380, 88381) are performed, they are reported separately. Modifier 26 can be appended if only the interpretation and report are provided by a physician.

Modifier 26 can be appended if only the professional component (interpretation and report) is performed by a physician.

Medical necessity for 81254 is established when there is a clinical suspicion of a condition associated with GJB6 variants, such as nonsyndromic hearing loss (especially DFNA3), or Clouston syndrome. Pre-pregnancy carrier screening may also justify medical necessity.

The laboratory analyst performs all technical aspects of the test, including nucleic acid extraction, amplification, and detection of target gene variants.

In simple words: This is a lab test that looks for common changes (mutations) in your GJB6 gene, also known as connexin 30. This gene is important for making proteins that form channels between cells. Changes in this gene can sometimes cause hearing problems or skin conditions. The test helps doctors figure out if you have these specific changes.

This code represents a gene analysis test for common variants in the GJB6 gene, which codes for connexin 30. These variants are typically 309kb [del(GJB6-D13S1830)] and 232kb [del(GJB6-D13S1854)], but other, less frequent, variants may also be included in the analysis. Testing is usually requested for pre-pregnancy evaluation, or to help diagnose certain forms of hearing problems and skin disorders.

Example 1: A couple planning to conceive undergoes genetic testing, including GJB6 analysis (81254), to determine carrier status for nonsyndromic hearing loss (DFNA3) and skin conditions such as Clouston syndrome., A child with prelingual hearing loss undergoes testing for the GJB6 gene to assess the contribution of connexin 30 variants to their condition., An adult with progressive hearing loss and thickened skin on their palms and soles undergoes GJB6 testing to evaluate for Clouston syndrome.

Documentation should include the patient's medical history, family history of hearing loss or skin disorders, audiological evaluation if applicable, and the clinical indication for the test.

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