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Lab Dept:
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Anatomic Pathology
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Test Name:
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ANGELMAN SYNDROME (UBE3A) SEQUENCING
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General Information
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Lab Order Codes:
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UBE3A
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Synonyms:
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UBE3A sequencing
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CPT Codes:
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81406 – UBE3A (ubiquitin protein ligase E3A) (eg, Angelman syndrome), full gene sequence
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Test Includes:
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Sequencing of the UBE3A gene. An interpretive report will be issued.
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Logistics
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Test Indications:
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N/A
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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University of Chicago Genetic Services Laboratory
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Thursday, 24 hours
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Turnaround Time:
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4 – 6 weeks for the first sample
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Special Instructions:
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Please include completed University of Chicago Request and Consent forms with the specimen or patient to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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10 mL (Minimum: 3 mL) blood
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Processed Volume:
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3 - 10 mL whole blood
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not centrifuge. Send specimens in original collection containers via overnight shipping. Store and ship at room temperature. Forward promptly.
Note: Specimens can only be shipped Monday through Thursday. Specimens will not be processed at the University of Chicago on weekends or holidays. Hold specimens collected on weekends and holidays at refrigerated temperatures and ship at ambient temperatures on the next business day, Monday – Thursday.
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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No abnormality detected
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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PCR amplification, gel electrophoresis
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References:
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University of Chicago Genetic Services Laboratory April 2010
(888) 824-3637 Fax (773) 834-0556
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Updates:
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1/15/2013: CPT update
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