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Lab Dept:
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Anatomic Pathology
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Test Name:
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AMINOGLYCOSIDE-INDUCED DEAFNESS (MTRNR1) KNOWN MUTATION
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General Information
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Lab Order Codes:
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AMNDK
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Synonyms:
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Hearing Loss Genes; MTRNR; C494T Mutation; A1555G Mutations
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CPT Codes:
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81403 – Molecular pathology, level 4
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Test Includes:
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Carrier testing for MTRNR1.
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Logistics
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Test Indications:
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Testing of a relative for a specific known mutation (carrier testing).
MTRNR1 encodes the mitochondrial 12S ribosomal RNA protein. Hearing loss as a result of aminoglycoside exposure (OMIM# 58000) has been reported to involve at least two mutations in this gene, C1494T and A1555G. 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. Both mutations are screened.
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Lab Testing Section:
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Anatomic Pathology - Sendouts
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Referred to:
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University of Iowa, Dr. Richard Smith
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Phone Numbers:
Minneapolis:
Saint Paul:
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612-813-6280
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651-220-6550
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Test Availability:
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Monday – Thursday, 24 hours
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Turnaround Time:
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3 months
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Special Instructions:
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Include clinical data, specifically audiograms, CT/MRI reports, and pedigree information. Include name, e-mail, and telephone number of contact person (physician or genetic counselor). Do NOT send on Friday or Saturday.
Please include a completed University of Iowa Request form with the patient of specimen to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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10 mL (Minimum 8 mL) blood
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Processed Volume:
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8 – 10 mL whole blood
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Collection:
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Routine venipuncture
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Special Processing:
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Send lavender tubes labeled with a minimum of Name, Date of Birth, and Age. Include clinical data, specifically audiograms, CT/MRI reports, and pedigree information. Include name, e-mail, and telephone number of contact person (physician or genetic counselor). Mail overnight delivery at Room Temperature Monday - Thursday. Do Not send on Friday or Saturday. Samples may be refrigerated if delivery is delayed.
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Patient Preparation:
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None
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Sample Rejection:
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Specimens older than 48 hours; mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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No abnormal allele variants detected
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Methodology:
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DHPLC and sequencing
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References:
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Clinical Diagnostics Service, Molecular Otolaryngology Research Lab information sheet from the University of Iowa. June 2010
(319) 335-7997 Fax: (319) 353-5869
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Updates:
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7/29/2010: CPT updates from University of Iowa.
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