Mitochondrial Studies/Mitochondrial DNA 
Alternate Test Names
Mitochondrial Studies -Mitochondrial DNA mtDNA 
PLS Test Code
MS 
Laboratory
Biochemistry 
Specimen
Blood 
Analysis Performed On
Blood 
Container
EDTA Tube 4 ml 
Container Colour
Mauve 
Multiple Specimens
2 x 4 ml 
Required Volume Adult (mL)
Req Vol Paediatric (mL)
Reference Ranges
Heteroplasmic 
Turnaround Time Routine
4 Weeks 
Turnaround Time Urgent
 
Turnaround Other
 
Days test is performed
Fortnightly 
Transport
Keep cool 
Special Requirements
None 
Patient Preparation
Patient must sign genetic and billing consent-Refer to website for pdf forms 
Collection Instructions
Venepuncture 
Clinical Information
Heteroplasmy may not be detected in blood. Recommend collecting hair follicles and/or first morning void urine or muscle in sterile specimen jar. Muscle biopsies are to be referred and collection pre-arranged by doctor/s and processed by VNLS at Alfred Pathology first. CPEO (-mitochondrial deletion screening to be carried out in adults in muscle only. No patient is exempt from fees as genetic tests are not Medicare or Private Health Care covered.-Refer to website for requisition and specimen handling protocol. Please specify clinical signs and symptoms or indicate gene/s to be investigated. St Vincent's Melbourne Mitochondrial and Autoimmune Diagnostic Laboratory (MAND) https://svhm.org.au/home/health-professionals/diagnostic-services/clinical-neuroscience  
Sent to Reference Laboratory
Yes 
Ref Laboratory Name
St Vincent's Hospital Melbourne Mitochondrial and , Tel: 03 9231 3366, Address: St Vincent's Hospital, 5th floor Daly Wing,  
Estimated Patient Fee
$150.00 
Last Updated
19-Feb-2021  (Version:1.02 )

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