Overview

Disorders of mitochondrial energy generation can be caused by primary mutations in mitochondrial DNA (point mutations and single deletions) and secondary mutations in mitochondrial DNA (multiple deletions or depletion of mitochondrial DNA) caused by nuclear gene disorders. The range of testing offered by VCGS includes a panel of 22 of the most common mitochondrial DNA point mutations and tests for mitochondrial DNA deletions and depletion. A significant consideration with testing for mitochondrial DNA mutations is that some mutations can be absent from samples such as blood and saliva. For example, urine sediment is preferred as a sample for adults suspected of MELAS, while muscle or liver biopsies may be the most appropriate sample for testing mitochondrial DNA deletions or depletion.

Category

Cost

22 mutation panel (per sample) $350

Deletion/Duplication Screening $400

Depletion testing $350

Prenatal (inc. mutant load) $660

Reporting time

4 - 6 weeks (mutation panel)

6 - 8 weeks (Deletion, Duplication, Depletion)

1 - 3 weeks (prenatal)

Contacts

Dr Belinda Chong

Phone (03) 9936 6550

Specimen Requirements

EDTA blood: Adult: 1 x 4 ml, Child: 1-2 ml

Prenatal: Amniotic Fluid 20ml; Chorionic Villus 20mg

Urine: 10-20ml (preferably early morning)

Liver/Muscle: 1-5mg tissue 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.

Mutation Panel: Ideal sample type is blood and urine for MELAS testing.
Deletion Screening: Ideal sample type is muscle in adults and blood in children.
Depletion Testing: Ideal sample type is Liver/Muscle.
Some heteroplasmic mtDNA mutations disappear from blood with age. Therefore if tissue biopsies are available, these may be more suitable than blood for mtDNA analysis.

Notes

Patient to be referred to a genetics clinic for prenatal testing.

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.