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.