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Lab Dept:
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Anatomic Pathology
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Test Name:
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NONSYNDROMIC SENSORINEURAL DEAFNESS (MTTS1) KNOWN MUTATION
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General Information
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Lab Order Codes:
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MTTK
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Synonyms:
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Hearing Loss Genes; MTTS1-A7445G Mutation; Diabetes-deafness syndrome
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CPT Codes:
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83891 x2 – Isolation or extraction of highly purified nucleic acid
83894 x2 – Separation by gel electrophoresis
83898 x2 – Amplification of patient nucleic acid, each nucleic acid sequence
83904 x4 – Mutation identification by sequencing, single segment, each segment
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Test Includes:
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Carrier testing for MTTS1.
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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).
The A7445G mutation in the MTTS1 gene, which encodes the transfer RNA for serine (OMIM# *590080), is associated with maternally inherited, nonsyndromic hearing loss (Reid et al., 1994). The deafness is progressive, post lingual and involves the high frequencies.
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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 or specimen to the laboratory. Informed consent is required.
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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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10.0 mL (Minimum 8.0 mL) blood
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Processed Volume:
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8.0 – 10.0 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
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