Uniparental Disomy Chromosome 15

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Lab Dept: Anatomic Pathology Test Name: UNIPARENTAL DISOMY CHROMOSOME 15 General Information Lab Order Codes: UPD15 Synonyms: UPD Testing for chromosome 15; Prader-Willi/Angelman Syndrome CPT Codes: 81402 – Uniparental disomy (UPD) (eg, Russell-Silver syndrome, Prader- Willi/Angelman syndrome), short tandem repeat (STR) analysis Test Includes: Testing of child and both parents. Logistics Test Indications: 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. Lab Testing Sections: Anatomic Pathology - Sendouts Referred to: University of Chicago Genetic Services Laboratory (UCH test: 1105) Phone Numbers: MIN Lab: 612-813-6280 STP Lab: 651-220-6550 Test Availability: Daily, 24 hours Turnaround Time: 2 - 4 weeks Special Instructions: EDTA blood from both parents and the child is required. Specimen Specimen Type: Whole blood Container: Lavender top (EDTA) tube x3 Draw Volume: 10 mL (Minimum: 3 mL) blood from child and both parents Processed Volume: Same as Draw Volume Collection: Routine blood collection Special Processing: 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. Patient Preparation: None Sample Rejection: Mislabeled or unlabeled specimens Interpretive Reference Range: Narrative report Methodology: Microsatellite analysis References: University of Chicago Genetic Services Laboratory Web Page March 2018 Phone: 888-824-3637 Updates: 1/15/2013: CPT updates .

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