Overview

This test is the most comprehensive test to identify variants in the one analysis. Whole Genome Sequencing enables the identification of single nucleotide and copy number variants in more than 290 nuclear encoded genes, as well as genes in the mitochondrial genome.

Accurate quantitation of heteroplasmy levels of large (>1kb) mtDNA deletions is possible with this assay.

DNA extracted from EDTA blood or muscle biopsy are the most suitable samples for analysis (urine and saliva samples are not suitable).

For urgent clinical cases, VCGS offers a RAPID turnaround time of 3 weeks for WGS (additional charges apply).

*Please note, WGS requests require referral via a clinical geneticist.

Category

Cost

$4300 (singleton genome)

PLUS $1500 for RAPID result (3 weeks)

Reporting time

12-16 weeks

Contacts

P: 1300 11 8247
E: [email protected]

Specimen Requirements

Sample Type Sample Volume
EDTA Blood

4ml

Muscle 1-5mg

(Not suitable for urine or saliva samples)

Important notes for specimen storage and handing:

  1. EDTA blood: Store at 4°C or room temperature. Do NOT freeze.
  2. 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.