Aminoglycoside-induced hearing loss : MTRNR1 Targeted Analysis

Test Information

MTRNR1 Targeted analysis is a molecular test used to identify the A1555G variant associated with Aminoglycoside-induced hearing loss.

Turnaround Time

2 weeks

CPT Code(s)

81401

Cost

$350

Genes

Clinical Information

Exposure to aminoglycoside antibiotics such as gentamycin and tobramycin can lead to sensorineural, bilateral, and severe-to-profound hearing loss. A single base-pair substitution from an A to a G at position 1555 in the MTRNR1 gene (encoding 12S ribosomal RNA) predisposes individuals to aminoglycoside ototoxicity. Evidence has shown that even a single dose of an aminoglycoside antibiotic results in irreversible hearing loss in Individuals with this mutation. The hearing loss is not dependent on aminoglycoside exposure. Approximately 40% of individuals with the A1555G mutation who have not been treated with aminoglycosides will develop hearing loss by 30 years of age, and the penetrance increases to 80% by age 65. The MTRNR1 gene is located within mitochondrial DNA, and the A1555G mutation is, therefore, transmitted by maternal inheritance. The mutation occurs as a homoplasmic change and has a prevalence of approximately 1% in the U.S. population.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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