Pathology Handbook

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Common Mitochondrial Mutation/DNA Depletion studies

Alternative Names:

Mitochondrial DNA targeted 22 mutation panel (+3 POLG)
Common Mitochondrial Mutation
DNA depletion Studies.

Laboratory:

Molecular

Test Code:

VCG

Specimen Types:

EDTA
Amniotic Fluid
Urine First Catch
Tissue

Container Types:

EDTA
See Under Collection Instructions

Adults Volume or Mass:

4 mL

Minimum/Paediatric Volume or Mass:

2 mL

Collection & Request Instructions:

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.

Transport Instructions:

Room Temperature

Assay Frequency:

By Arrangement