MERRF Mutation Analysis

MERRF Mutation Analysis

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.


Forms & Docs

Ordering

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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 [email protected]

Details

Genes Covered
MT-TK

Methods
Sanger


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