Pricing effective 19th October 2020

This information is relevant to Mitochondrial Genetics testing.

This table outlines the test options available, the sample type and volume required for each test, the reporting time and the cost per sample.

A significant consideration with testing for mtDNA mutations is that some mutations can be absent from samples such as blood and saliva. For example, urine sediment is preferred as a sample for adults suspected of MELAS, while muscle or liver biopsies may be the most appropriate sample for testing mitochondrial DNA deletions or depletion as some heteroplasmic mtDNA mutations disappear from blood with age.

Please contact the laboratory to discuss the most suitable sample type for testing prior to request.
P: 1300 118 247
E: [email protected]

Test option Sample Type Sample Volume Reporting time Cost per sample

Whole Genome Sequencing (WGS): nuclear genes plus mtDNA

EDTA Blood

Muscle

(Not suitable for urine or saliva samples)

Adult: 4ml; Child: 2ml

1-5mg

12-16 weeks

$4300 (singleton genome)

PLUS $1500 for RAPID result (3 weeks)

Whole Mitochondrial Genome (mtDNA) analysis (NGS)

EDTA blood

Saliva

Liver/Muscle

Urine (Adults-see below #)

CVS

Adult: 4ml; Child: 2ml

ORACollect kit

1-5mg

10-20ml (early morning)

20mg

12-16 weeks

$1200

+ $200 (if maternal sample included)

+ $350 (per additional sample type or additional patient sample)

RAPID mtDNA (NGS)

(recommend: include proband blood where possible as control sample)

EDTA blood

Liver/ Muscle

Adult: 4ml; Child: 2ml

1-5mg

3 weeks

$2500

(proband blood sample included in price)

**Prenatal mtDNA (NGS)

Include maternal/proband urine or EDTA blood sample as positive control

Chorionic Villus

20mg 3 weeks Contact lab to discuss

Deletion quantitation - 2nd tier test for known mtDNA deletion (Q-PCR)

Contact lab for sample type

Contact lab for TAT Contact lab for price

Depletion quantitation (Q-PCR)

Liver (hepatic)

Muscle (myopathic)

1-5mg

1-5mg

Contact lab for TAT Contact lab for price

Nuclear mitochondrial disease gene panel (refer genomics)

EDTA blood

Adult: 4ml; Child: 2ml

12-16 weeks

$2000 (exome_med)

$3000 (WGS_med)

POLG + SURF1

(single nuclear gene testing)

EDTA blood

Adult: 4ml; Child: 2ml

12-16 weeks

$1400 (exome_small)

$2400 (WGS_small)

Cascade testing (nuclear) via Sanger sequencing

EDTA blood

Saliva

Adult: 4ml; Child: 2ml

ORACollect kit

6-8 weeks

$340 (per variant)

$440 (per externally identified variant)

Cascade testing (mtDNA)

EDTA blood

Saliva

Liver/Muscle

Urine (for Adults >30 years-see below #)

Adult: 4ml; Child: 2ml

ORACollect kit

1-5mg

10-20ml (early morning)

6-8 weeks

$700 (per variant)

$800 (per externally identified variant)

Respiratory Chain Enzymes

Skel. Muscle

Liver, cardiac muscle

*Cell lines

50mg (tissue)

20mg (tissue)

25sq.cm flask

6 weeks

6 weeks

6 months

$1130

$1130

$1525

**Prenatal - Please contact the laboratory to discuss testing prior to arranging with patient. Patient to be referred to a genetics clinic for prenatal testing (requirements: mother to have been tested previously or simultaneously via NGS assay for mutant load).

#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.

*Skin fibroblast and transformed lymphoblast cells lines are suitable only in certain circumstances.

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. Cultured cells: Store at room temperature. Do NOT freeze.
  4. 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.

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.

Contacts: Phone: Customer care: 1300 118 247 Email: [email protected]