Test & specimen information

Mitochondrial - whole genome

Overview

This is the most comprehensive test to identify variants in the one analysis. Whole genome sequencing (WGS) enables the identification of single nucleotide and copy number variants (CNVs) in more than 290 nuclear encoded genes, as well as genes in the mitochondrial genome.

Accurate quantitation of heteroplasmy levels of large (>1kb) mtDNA deletions is possible with this assay.

For urgent clinical cases, a RAPID turnaround time of 3 weeks is available (additional cost).

Test type

Whole genome sequencing (WGS)

Turnaround time

3-4 months
Rapid: 3 weeks

Cost

Singleton: $4300
Rapid: +$1500

Sample

DNA extracted from EDTA blood or muscle biopsy are the most suitable samples for analysis. Urine and saliva samples are not suitable.

EDTA blood
Adult: 4-5 mL

Tissue
Muscle: 1-5 mg

Storage & transport

EDTA blood: Store at 4°C or room temperature. Do NOT freeze.

Tissue biopsy/autopsy samples: Must be stored at -70°C (-20°C is inadequate) until transport on dry ice. Once frozen, they must not be allowed to thaw.

Collection notes

Postmortem Samples
Collect as soon as possible after death - preferably within 2 hours. Note the time between death and freezing of samples.

Talk to us

Clinical genomics (Translational Genomics Unit)

1300 118 247

[email protected]

Mitochondrial - whole genome

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Overview

Test type

Turnaround time

Cost

Specimen requirements

Sample

Storage & transport

Collection notes

How to order

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