--- Query Results --- | |||||||
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: | Angelman Syndrome (Synonyms: AS, ANGS, UBE3A) | ||||||
Ordering Alert: | For prenatal testing, amniotic fluid specimens are preferred. For uniparental disomy, refer to Uniparental Disomy . | ||||||
Collection Alert: | Unopened dedicated tubes (do not share) are required for Molecular Genetics testing. Whole blood is the preferred specimen type for tests performed using MLPA methodology. | ||||||
LABID (Connect Care): | LAB4109 | ||||||
Test Code: |
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Specimen Type: | Blood, Swab, Tissue, DNA, Amniotic Fluid, Pleural Fluid, Other | ||||||
Specimen Source: | Indicate a specimen source | ||||||
Primary Container: | Lavender Top - EDTA | ||||||
Alternate Containers: | Microcollection - EDTA Polypropylene tube DNA tube Sterile container | ||||||
Minimum Collection Volume: | See Specimen Collection Requirements | ||||||
Specimen Collection Requirements: | For Blood Specimen (peripheral or cord blood) EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw
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Test Resources: | Pre-test Counselling Information-Genetic and GenomicTesting All requests MUST be submitted on:
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 -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:
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Method: | 15q11 methylation sensitive MLPA | ||||||
Method and Interpretation of Results: | Detects copy number changes and determines methylation status. Does not distinguish between imprinting center pathogenic variants and UPD. | ||||||
Routine Turn Around Time: | Routine: 6 to 8 weeks, Stat: 1 to 2 weeks | ||||||
Reference Interval: | Interpretation provided on report. | ||||||
Testing Area: | Molecular Genetics | ||||||
Performing Site: | Alberta Children's Hospital | ||||||
Additional Test Information: | To obtain buccal swab collection kits, contact:
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Contact Comments: | For additional information refer to Genetics and Genomics webpage
or contact: Molecular Genetics South: 403-955-7397 (phone), 403-955-7624 (fax) | ||||||
Last Updated On: | Monday, August 15, 2022 | ||||||
Date of Last Review: | Aug 1 2022 12:00AM | ||||||