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 Deletion Duplication Analysis (Synonym: MTDNA, Kearn-Sayre Syndrome, KSS, Pearson Syndrome, Chronic Progressive External Ophthalmoplegia, CPEO)

Test Includes:

Mitochondrial Genome

Ordering Alert:

Ordering is Restricted to Metabolic and Neuromuscular specialists

Collection Alert:

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

LABID (Connect Care):

LAB4501

Specimen Type:

Tissue (muscle biopsy is the specimen required for all deletion duplication testing except Pearson syndrome), Blood (Pearson syndrome only), DNA (from blood (for Pearson syndrome only) or muscle), Other

Specimen Source:

Indicate a specimen source

Primary Container:

Sterile container

Alternate Containers:

Lavender top EDTA
Microcollection EDTA
DNA tube

Minimum Collection Volume:

See Specimen Collection Requirements

Specimen Collection Requirements:

For Tissue Specimens
NOTE: For Southern Methodology (deletion syndromes): Muscle tissue biopsy is required except if suspicion is for Pearson syndrome.

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

For Blood Specimen (peripheral)
Note: Only for suspected Pearson syndrome. 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)
NOTE: Only for suspected Pearson syndrome.

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

Submit 10ug @ >100ng/uL.

Test Resources:

Pre-test Counselling Information-Genetic and Genomic Testing

Submit requests using requisition or Connect Care online order entry:

Molecular Genetics 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 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, Tissue, 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.

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:

Southern Analysis

Method and Interpretation of Results:

Detects deletion syndromes.

Routine Turn Around Time:

Routine: 4 months, Stat: 4 weeks

Reference Interval:

Interpretation provided on report.

Testing Area:

Molecular Genetics

Performing Site:

University of Alberta Hospital

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

Date of Last Review:

Aug 1 2022 12:00AM