MT-TS1 Gene Analysis Common Variants
Label Mnemonic: MTTS1
Epic Lab Code: LAB7327
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:
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%.
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 A7445G mutation within the MTTS1 gene, followed by sequencing.
CPT Code: