MT-TL1 Gene Analysis Common Variants
Label Mnemonic: MTTL1
Epic code: LAB7326
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 A3243G mutation in the MTTL1 gene, which encodes the mitochondrial transfer RNA for leucine, has been shown to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy and/or renal failure (Manouvrier et al., 1995.) The A3243G mutation also causes MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). MORL offers screening for this mutation.

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 A3243G mutation within the MTTL1 gene, followed by sequencing.
CPT Code: