Mitochondrial 12S rRNA Variants

Test Background

Mutations in the mitochondrial 12S rRNA/ MTRNR1 gene: M.1555A>G, M.961delT/insC, M.961T>G, M.1095T>C, and M.1494C>T have been found in some patients with aminoglycoside-induced hearing loss or hereditary non-syndromic sensorineural hearing loss. Among these, M.1555A>G is the most common mutation associated with aminoglycoside-induced hearing loss in the Asian population. This test does not rule out the possibility of low-level heteroplasmy for these mutations or some other mitochondrial mutations. This laboratory performs targeted mutation analysis.

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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