Mitochondrial tRNA-Lys Mutations

Mutations at the nucleotide position 8296, 8344, 8356, and 8363 of the mitochondrial tRNALys gene have been found in some patients with MERRF (myoclonic epilepsy with ragged-red fibers) and sensorineural hearing loss (SNHL). Among these syndromic SNHL-causing mutations, M.8344A>G is the most common mutation found in patients with MERRF or MERRF with deafness. 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
T0014

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
MT-TK

Methods
Sanger