Mitochondrial 12S rRNA Mutations

Mutations in the mitochondrial 12S rRNA/ MTRNR 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.

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Test Code
S0920

Turn Around Time
2-3 weeks

Billing

CPT Code
81401×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
MTRNR

Methods
Sanger