MT-TL1 Gene Analysis Common Variants
Commercial Mail-out Laboratory
|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
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
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.