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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

Either targeted mitochondrial genes, or the full mitochondrial genome, are analysed by bidirectional automated DNA sequencing.

The investigation of a mtDNA disorder involves the amplification of specific regions of the mitochondrial genome. The clinical details provided determine which regions are to be amplified. For typical mitochondrial disease requests (e.g. MERRF, MELAS, mitochondrial myopathy) or requests with no clinical details, 5 regions encompassing common mutations in the MT-TL1, MT-TKMT-ATP6, MT-ND5, and MT-TE genes are amplified and sequenced (Table 1). Fragments are analysed by automated bidirectional fluorescent sequencing for the presence of specific known mutations.

Diagnostic Use / Indications

 

Constituent TestsGenomic DNA Extraction ;
External Price$602.54(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 SpecimenBuccal cells
Paediatric SpecimenBuccal cells
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 disease since tissue heteroplasmy may result in mutations being undetectable in buccal samples. Muscle biopsy is the recommended sample in these cases.

Uncertainty of Measurement

 Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, 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 intronic regions, except at the intron-exon boundaries.

Additional Information


Delphic Number Test Number4582

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