Mitochondrial tRNA-Ser Mutations
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.