Mitochondrial tRNA-Ser Variants

Test Background

Mutations at the nucleotide position 7445, 7472, 7510, 7511, or 7512 for syndromic SNHL of the mitochondrial tRNASer gene have been found in some patients with non-syndromic sensorineural hearing loss (SNHL). 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.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.