Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Mitochondrial Genome, Specific Variant Analysis (Synonym: MTDNA)

Test Includes:

Mitochondrial Genome

Ordering Alert:

Ordering is Restricted to:

Confirmation of Diagnosis¹

Metabolic and Neuromuscular specialists

Presymptomatic Testing² Clinical Genetics

¹patient has signs or symptons of disease/disorder.
²patient does not presently have symptons, positive family history of the condition.

Collection Alert:

Unopened dedicated tubes (do not share) are required for Molecular Genetics testing.

LABID (Connect Care):

LAB4500

Specimen Type:

Tissue, Urine, Swab, Blood, DNA, Amniotic Fluid, CVS, Pleural Fluid, Other

Specimen Source:

Indicate a specimen source

Primary Container:

Sterile container

Alternate Containers:

Lavender top EDTA
Microcollection EDTA
Sterile polypropylene centrifuge tube
DNA tube

Minimum Collection Volume:

See Specimen Collection Requirements

Specimen Collection Requirements:

Tissue, Urine, Swab, Blood, DNA, Amniotic Fluid, CVS, Pleural Fluid, Other

For Fresh or Frozen Tissue specimens: Submit a minimum of 20 mg in a sterile container with NO fixative.

For Urine Specimens
Note: Can submit from multiple collections throughout the day if patient is catheterized or unable to provide in a single collection. Note: Urine is not an acceptable specimen for Mitochondrial deletion analysis. Please see Mitochondrial Genome Deletion Duplication Analysis for preferred sample types.

Collect first morning urine (NOT mid-stream).
Submit 50 to 100 mL in a sterile urine container.

For Blood Specimen (peripheral)
EDTA tubes should be completely full (2/3 full at minimum). Testing may be affected by partial draw.

For Patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
For Patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
For Neonates: 1 EDTA containing a minimum of 0.5 mL of blood

For Postnatal (cord blood)

A maternal blood sample must be collected for maternal cell contamination studies.

For Prenatal Specimens (chorionic villi or amniotic fluid)

For Chorionic Villi specimens: 15 mg

For Amniotic Fluid specimens: 25 mL
Submit in a sterile polypropylene centrifuge tube or in a plain sterile tube with screw cap.
A maternal blood sample must be collected for maternal cell contamination studies.

For Extracted DNA

Submit 10ug @ >100ng/uL.

For Buccal Swab Specimens

Collect 4 buccal brushes.

For Pleural Fluid Specimen

Will attempt DNA extraction on any amount received

Submit in a sterile container with screw cap.

Test Resources:

Pre-test Counselling Information-Genetic and GenomicTesting
Mitochondrial DNA Testing in Alberta
Patient Instructions: Urine Sample Collection for Mitochondrial Studies

Submit requests using requisition or Connect Care online order entry:

Molecular Genetics Laboratory General Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Room temperature: For all specimen types (except frozen tissue) if being shipped on same day of collection (preferred).
Refrigerated: If shipping is delayed.
Frozen: Frozen tissue specimens at -20^oC to -80^oC.

Processing:

Do not centrifuge or aliquot specimens.

Transportation:

Transport all specimen types (except frozen tissue) at room temperature. Specimens must not freeze in transit.

Transport frozen tissue specimens with adequate amounts of dry ice to keep specimen frozen.
Specimens must not thaw in transport.

Specimens, should be received by the Molecular Genetics Laboratory:

Within 5 days of date of collection for Blood and Extracted DNA specimens.
Within 24 hours of date of collection for Amniotic Fluid, Chorionic Villi and Tissue specimen types.
And must include the original paper requisition and accompanying documentation

Transport specimens (except extracted DNA) to Molecular Genetics Laboratory via UAH Specimen Control WMC 4B2.10.
For Extracted DNA samples only, transport specimens to Molecular Genetics Laboratory via UAH Shipping Receiving, UNIVERSITY OF ALBERTA HOSPITAL, 8440 112 STREET, Room: 8-26 MSB, EDMONTON, T6G 2B7

Blood, Amniotic Fluid, Tissue, Buccal Swab, Urine, Pleural fluid and Extracted DNA specimens

Are received Mon – Fri: 07:30 to 15:00.
If received after 15:00, will be processed on the next working day.

Chorionic Villi specimens

Are received Mon – Thurs: 07:30 to 15:00.
Cannot be received on Fridays.

If Amnio and CVS specimens are sent from outside of Edmonton for testing in Molecular Genetics North, please call the laboratory at 780-407-1542 or fax shipping information to 780-407-3059 to inform the lab of expected arrival times and mode of transport.

If Tissue specimens are sent from outside of Edmonton for testing in Molecular Genetics North, please call the laboratory at 780-407-1434 or fax shipping information to 780-407-1761 to inform the lab of expected arrival times and mode of transport.

Method:

Next Generation Sequencing

Method and Interpretation of Results:

Mitochondrial DNA is analyzed using next generation sequencing technology (NGS). NGS detects nucleotide substitutions, small insertions and deletions.

Routine Turn Around Time:

Routine: up to 16 weeks, Stat: 4 weeks

Reference Interval:

Interpretation provided on report.

Testing Area:

Molecular Genetics

Performing Site:

University of Alberta Hospital

Additional Test Information:

To obtain buccal swab collection kits, contact:

Molecular Genetics North

780-407-143

Contact Comments:

For additional information refer to Genetics and Genomics webpage or contact: Molecular Genetics North: 780-407-1434 (phone), 780-407-1761 (fax)

Last Updated On:

Monday, November 27, 2023