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 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 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%.

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 A3243G mutation within the MTTL1 gene, followed by sequencing.

CPT Code:

81401