Overview

Relatives of a patient previously diagnosed with a specific mutation may be tested for the same mutation.
Testing depends upon the mutation type identified in the relative:

Nuclear DNA: cascade testing is via Sanger sequencing on an EDTA blood sample

mtDNA: cascade testing is via NGS panel for the specific mutation- blood, liver, muscle or urine samples are suitable depending upon the condition.

Category

Cost

Nuclear DNA:

$340 (per variant)

$440 (per externally identified variant)

mtDNA:

$700 (per variant)

$800 (per externally identified variant)

Reporting time

6-8 weeks

Contacts

P: 1300 11 8247
E: [email protected]

Specimen Requirements

Nuclear DNA:

Sample Type Sample Volume
EDTA blood Adult: 4ml; Child: 2ml
Saliva

ORACollect kit

mtDNA:

Sample Type Sample Volume
EDTA blood Adult: 4ml; Child: 2ml
Saliva ORACollect kit
Liver/Muscle 1-5mg
Urine#
(for Adults >30 years)
10-20ml (early morning)

#Urine is recommended in adults >30 years old as the mutation can disappear from blood with age, in particular individuals suspected of MELAS for the m.3243A>G mutation. Please note critical collection, storage and transport requirements for urine - detailed below.

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.

Notes

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.