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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 21
Method
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.
Diagnostic Use / Indications

 

Constituent TestsGenomic DNA Extraction ;
External Price$611.58(Exclusive of GST)
  

Specimen Collection

 
Specimen Collection Protocols

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 Specimen4.0mL EDTA, EMU, Buccal Cells, Muscle
Paediatric Specimen1.0mL EDTA, EMU, Buccal Cells, Muscle
Sample Delivery to LabSame day or overnight courier, ambient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Interpretation

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.

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.

Additional Information


Delphic Number Test Number4582

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