Respiratory Chain Enzymes

Aka “Cytochrome oxidase”
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Test nameRespiratory Chain Enzymes
Synonyms or
Related Tests
Electron Transport Chain (ETC)
Mitochondrial - enzyme analysis
Oxphos
RC enzymes
Oxidative Phosphorylation
Cytochrome oxidase
Cytochrome c oxidase
Laboratory Mitochondrial   ** Important information about the Mitochondrial Lab **
Cost
Reporting Time
Contact
PersonPhoneWCH Extension
Dr David Thorburn8341-623482-6234
Specimen Requirements

Preferred sampleSkeletal muscle, liver, cardiac muscle (depending on clinical history).

Skin fibroblast & transformed lymphoblast cell lines are suitable only in certain circumstances.

Notes

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. 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. Cultured cells should be sent at room temperature and must not be allowed to freeze.

OTHER INFORMATION NEEDED FOR RELIABLE INTERPRETATION:

  1. Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant
  2. Paired plasma lactate & pyruvate levels; multiple estimations preferred.
  3. Paired CSF lactate & pyruvate levels, preferably with blood levels obtained at about the same time.
  4. Full clinical summary and family history with pedigree.
  5. Copies of relevant investigations, as appropriate, including:


Important information concerning the Mitochondrial Lab

The Mitochondrial Laboratory will NOT agree to study any patient samples unless the case has been discussed with the metabolic physician.

Dr David Thorburn
Laboratory Head
Phone: (03) 8341-6234
Email: david.thorburn@mcri.edu.au
Dr Avihu Boneh
Metabolic Physician
Phone: (03) 8341-6252

Please inform the lab of patient and shipping details by email ( mito.samples@mcri.edu.au ) or phone prior to dispatch.

Specimen storage and transport requirements:

  1. Tissue biopsy / autopsy samples:
    • must be stored @ -70°C (-20°C is inadequate)
    • once frozen, they must not be allowed to thaw
    • transport on an adequate amount of dry ice taking into account the time in transit
  2. Cultured cells:
    • send @ room temperature
    • must not freeze in transit
  3. Skin biopsies or blood samples for establishing a tissue culture line: - Refer to Tissue Culture Lab information

Please address the package as follows:

VCGS Pathology Specimen Reception
9th Floor, Royal Children's Hospital,
David Thorburn/Mitochondrial Lab
Flemington Rd, Parkville VIC 3052
(03) 8341 6235