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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.
Note: Only for suspected Pearson syndrome. EDTA tubes should be completely full (2/3 full at minimum). Testing may be affected by partial draw.
NOTE: Only for suspected Pearson syndrome.
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Test Resources: | Pre-test Counselling Information-Genetic and Genomic Testing Submit requests using requisition or Connect Care online order entry:
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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 -20oC to -80oC. | ||
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:
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
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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 | ||