Genetics - Molecular Pathology
Buccal cell collection protocol:
Patient should swill ~10ml of sterile water vigorously around their mouth for 20-30 seconds, then spit the collection into a sterile pottle for sending to the lab.
Alternatively a light swab of the cheek with a dry swab, which is then immersed immediately in ~10ml of sterile saline. NOT a gel media swab kit.
Patient specimen - EDTA, EMU, Buccal Cells, Muscle
Deliver same day or overnight courier, ambient
Ambient (8 - 24 degrees Celsius)
A normal result in this assay does not exclude a diagnosis of mitochondrial-associated disease since low heteroplasmy levels may result in mutations being undetectable in peripheral blood samples. Early Morning Urine (EMU), buccal cells or a muscle biopsy are the recommended samples in these cases. In addition, variants in nuclear-encoded genes known to be associated with mitochondrial disorders are not excluded in this analysis.
Patient mitochondrial DNA is amplified in two overlapping fragments using the polymerase chain reaction and analysed on an illumina MiSeq instrument. All coding regions of the mitochondrial genome (NC_012920.1) are analysed to a minimum depth of 1500x.
$626.87 (Exclusive of GST)
Uncertainty of Measurement:
Mitochondrial DNA NGS has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of Mitochondrial DNA NGS analysis is ~2%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within the mitochondrial control region.