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.
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