MT-TS1 Gene Analysis Common Variants

Label Mnemonic:	MTTS1
Epic code:	LAB7327
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:

The A7445G mutation in the MTTS1 gene, which encodes the transfer RNA for serine, is associated with maternally inherited, nonsyndromic hearing loss (Reid et al., 1994). The deafness is progressive, post lingual and involves the high frequencies.

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 A7445G mutation within the MTTS1 gene, followed by sequencing.

CPT Code:

81401