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

Specimen(s):

Whole Blood

Collection Medium:

	and
Pink top tube 6 mL (K2-EDTA)	and	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