MT-RNR1 Gene Analysis Common Variants
Label Mnemonic: | MTRNR1 |
Epic code: | LAB7325 |
Downtime form: | A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
and | ||
Pink top tube 6 mL (K2-EDTA) | Pink top tube 6 mL (K2-EDTA) |
Minimum:
Preferred Minimum: 8 mL whole blood
Absolute Minimum: 4 mL whole blood
Absolute Minimum: 4 mL whole blood
Turn Around
Time:
3 months
Reference Range:
None detected
Interpretive Data:
Hearing loss as a result of aminoglycoside exposure 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.
Sensitivity is greater than 99%.
Sensitivity is greater than 99%.
Comments:
Please print, complete and submit the Hearing Loss Testing Requisition Form from the Molecular Otolaryngology & Renal Research Laboratory, to Specimen Control/Mailouts with the specimen and the Epic Requisition.
Methodology:
Samples are amplified with an oligonucleotide primer pair that flanks
the A1555G and C1494T mutations within the MTRNR1 gene, followed by
sequencing.
CPT Code:
81401