Test & specimen information

Mitochondrial - whole mtDNA

Overview

Amplicon based, high coverage next generation sequencing (NGS) provides sensitive analysis of mtDNA. This assay detects any heteroplasmic or homoplasmic single nucleotide variant (SNV) as well as large deletions in a single assay.

Note: heteroplasmy levels of large deletions are an estimate only, they cannot be accurately determined due to inherent PCR bias.

This assay is not validated for the detection of large duplications.

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

Test type

Next generation sequencing (massively parallel sequencing) NGS

Turnaround time

3 -4 months
Rapid: 3 weeks

Cost

$1200
Rapid: $2500

Sample

EDTA blood (suitable for rapid testing)
Adult: 4-5 mL
Child: 1-2 mL

Saliva
Saliva kits can be requested for your patients.

Tissue (suitable for rapid testing)
Liver or muscle: 1-5 mg

Prenatal
Chorionic villus: 20 mg

Urine
10-20 mL (early morning sample)
Urine is no longer recommended as the preferred sample type in adults >30 years. Our assay is able to detect variants, including the common MELAS m.3243A>G mutation, present at low levels in EDTA blood samples. Urine may still be sent but please note due to the critical collection, storage and transport requirements for urine (detailed below), assay failure rates may be higher compared to blood.

Storage & transport

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

Urine
Early morning collection, frozen fresh (store at -20°C/freezer if patient collected at home/clinic), transport to lab on dry ice. To be stored at -70°C if not extracted immediately.

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

Notes

Additional tests such as respiratory chain enzyme testing and deletion and duplication quantitative testing may be ordered. Please contact us to request this testing.

Talk to us

Clinical genomics (Translational Genomics Unit)

1300 118 247

[email protected]

Mitochondrial - whole mtDNA

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Overview

Test type

Turnaround time

Cost

Specimen requirements

Sample

Storage & transport

Collection notes

Notes

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