The Clinical Diagnostics Service of the Molecular Otolaryngology & Renal Research Laboratories is a CLIA-approved, Joint Commission-accredited diagnostic laboratory that offers mutation screening of several genes.
MTRNR1 (OMIM# 561000)
Hearing loss as a result of aminoglycoside exposure (OMIM# 580000) has been reported to involve at least 2 mitochondrial mutations, C1494T and A1555G of the 12S rRNA gene. Damage to the inner ear is caused by reactive oxygen species, which provide a common pathway not only for aminoglycoside toxicity, but also for cisplatin toxicity and noise-induced hearing loss. MORL offers screening for both of these mutations.
Indications for screening
This test is appropriate if aminoglycoside-induced ototoxcicity is suspected.
Samples are amplified with an oligonucleotide primer pair that flanks the A1555G and C1494T mutations within the MTRNR1 gene, followed by sequencing.
Sensitivity is greater than 99%.
Turnaround time is approximately 3 months (Average TAT - 26 days).
8 - 10 cc. whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).
Cost & CPT Codes
See the MORL testing menu
Zhao, H. et al: Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 74: 139-152, 2004.
PubMed ID: 14681830