MT-RNR1 Gene Analysis Common Variants
Label Mnemonic: MTRNR1
Epic Lab Code: LAB7325
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 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
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%.
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