UNIPARENTAL DISOMY (UPD)
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copy from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development. can be the result of heterodisomy, a pair of non-identical chromosomes are inherited from one parent or isodisomy, in which a single chromosome from one parent is duplicated. These genetic anomalies result in genes that do not function well together and can lead to genomic imbalance.
Several genetic disorders can result from UPD. The most well-known conditions include Prader-Willi syndrome, Angleman syndrome, Beckwith-Wiedemann syndrome and Russell-Silver syndrome. UPD analysis should be considered if you suspect mosaicism, Robertsonian translocations or your patient presents with clinical features of Prader Willi, Angleman, Beckwith-Wiedemann and Russell-Silver syndromes.
This assay applies Polymerase Chain Reaction (PCR)/Microsatellite markers to the chromosome of interest using DNA from each parent and their offspring to test for the presence of uniparental disomy.
CPT Code: 81402
Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)
For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.
Turn-around-time: 28 days
OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104
Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514
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