Mitochondrial DNA Analysis Next Generation Sequencing

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

CPEO
Leigh disease
MELAS
MERRF
MIDD
Mitochondria
Mitochondrial
LEBER
LHON
NARP
Myopathy

Turnaround Time

4 weeks

Test Code

4582

Specimen Type

• Whole Blood
• Urine
• Tissue
• Buccal Swab

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Pre-testing Requirements

Buccal cell collection protocol:

Patient should swill ~10ml of sterile water vigorously around their mouth for 20-30 seconds, then spit the collection into a sterile pottle for sending to the lab.

Alternatively a light swab of the cheek with a dry swab, which is then immersed immediately in ~10ml of sterile saline. NOT a gel media swab kit.

Additional Specimen Information

Patient specimen - EDTA, EMU, Buccal Cells, Muscle
Deliver same day or overnight courier, ambient

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Interpretation

A normal result in this assay does not exclude a diagnosis of mitochondrial-associated disease since low heteroplasmy levels may result in mutations being undetectable in peripheral blood samples. Early Morning Urine (EMU), buccal cells or a muscle biopsy are the recommended samples in these cases. In addition, variants in nuclear-encoded genes known to be associated with mitochondrial disorders are not excluded in this analysis.

Test Method

Patient mitochondrial DNA is amplified in two overlapping fragments using the polymerase chain reaction and analysed on an illumina MiSeq instrument. All coding regions of the mitochondrial genome (NC_012920.1) are analysed to a minimum depth of 1500x.

Non-Funded Test Cost

$694.39 (Exclusive of GST)

Billing Code

4582

Uncertainty of Measurement:
Mitochondrial DNA NGS has an analytical sensitivity and specificity of >99%. Note that the reported lower limit of variant detection by Mitochondrial DNA NGS analysis is ~5% but levels less than this may be assessed and reported on a case-by-case basis. This analysis will not detect variants located within the mitochondrial control region.

Contact Information

Enquiry Form