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.

Please 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.

This assay is available for a number of sample types including EDTA blood, saliva (ORACollect kit) and liver/muscle biopsy. Please note, urine is no longer recommended for MELAS and adults >30 years - EDTA blood is the preferred sample type.

For urgent clinical cases, VCGS offers a RAPID turnaround time of 3 weeks for the mtDNA analysis (additional charges apply).

Prenatal whole mitochondrial genome (mtDNA) analysis

For known familial mitochondrial DNA mutations, prenatal diagnosis may be available via the whole mtDNA genome NGS analysis.

IMPORTANT: Please contact the laboratory to discuss prenatal testing prior to arranging test

  • Pregnant mother (and/or proband) must have been previously tested, or be tested simultaneously via NGS to determine changes in mutant load
  • Referral to clinical genetics is required for prenatal genetic testing
  • Maternal or proband sample is required as positive control for the prenatal assay




+ $200 (if maternal sample included)

+ $350 (per additional sample type or additional patient sample)

RAPID testing: $2500 (proband blood sample included in price)

Prenatal: Contact lab to discuss

Reporting time

12-16 weeks

RAPID: 3 weeks

Prenatal: 3 weeks


P: 1300 11 8247
E: [email protected]

Specimen Requirements

Sample Type Sample Volume

EDTA blood*

Adult: 4ml; Child: 2ml


ORACollect kit



Urine (No longer recommended-see below #)

10-20ml (early morning)

CVS** 20mg

* samples appropriate for RAPID testing

** sample appropriate for prenatal testing

#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.

Important notes for specimen storage and handing:

  1. EDTA blood: Store at 4°C or room temperature. Do NOT freeze.
  2. 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.
  3. 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.
  • Postmortem Samples: COLLECT AS SOON AFTER DEATH AS POSSIBLE, preferably within 2 hours. Note the time between death and freezing of samples.
  • Liver and muscle tissue samples should be no larger than 1.0 cm cubes; heart, kidney & brain samples may also be collected.
  • Enzymes can be assayed in postmortem heart but endomyocardial microbiopsies are too small.


Please provide the following clinical details (if available) to enable optimal interpretation:

  • Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant.
  • Full clinical summary and family history with pedigree.
  • Include copies of relevant investigations
    • urine organic & amino acids
    • tissue histology (including electron microscopy & enzyme histochemistry)
    • summary of CT, MRI or MRS studies of brain.
  • Paired plasma lactate & pyruvate levels; multiple estimations preferred.
  • Paired CSF lactate & pyruvate levels, preferably with blood levels obtained at about the same time.