MT-RNR1 Gene Analysis Common Variants
Label Mnemonic: MTRNR1
Epic Lab Code: LAB7325
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
Whole Blood
Collection Medium:
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA)
Preferred Minimum: 8 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%.
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.
Samples are amplified with an oligonucleotide primer pair that flanks the A1555G and C1494T mutations within the MTRNR1 gene, followed by sequencing.
CPT Code: