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Lab Dept:
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Anatomic Pathology
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Test Name:
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UNIPARENTAL DISOMY CHROMOSOME 15
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General Information
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Lab Order Codes:
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UPD15
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Synonyms:
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UPD Testing for chromosome 15; Prader-Willi/Angelman Syndrome
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CPT Codes:
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81402 – Uniparental disomy (UPD) (eg, Russell-Silver syndrome, Prader-Willi/Angelman syndrome), short tandem repeat (STR) analysis
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Test Includes:
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Testing of child and both parents.
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Logistics
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Test Indications:
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Uniparental disomy (UPD) describes a condition in which both homologs of a chromosome pair are derived from the same parent. UPD can be associated with phenotypic abnormalities if:
- The chromosome or chromosome segment involved carries genes that are imprinted. Genomic imprinting refers to the differential expression of alleles as determined by the parental origin of the allele.
- Homoygosity due to uniparental isodisomy results in the expression of an autosomal recessive condition from a single carrier parent.
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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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2 - 4 weeks
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Special Instructions:
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EDTA blood from both parents and the child is required.
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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 x3
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Draw Volume:
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10 mL (Minimum: 3 mL) blood from child and both parents
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Processed Volume:
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Same as Draw Volume
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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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Narrative report
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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 Web Page January 2013
Phone: 888-824-3637
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Updates:
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1/15/2013: CPT updates
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