UNIPARENTAL DISOMY ANALYSIS OF CHROMOSOME 15
Uniparental disomy analysis of chromosome 15 is performed on patients with Prader-Willi syndrome (OMIM 176270) and Angelman syndrome (OMIM 105830) who have abnormal methylation at the SNRPN region on chromosome 15 and who do not have a cytogenetically visible deletion using FISH or microarray analysis. UPD 15 microsatellite analysis distinguishes the patients that do or do not have UPD 15 from those who have an imprinting centre defect. This analysis does not prove that the patients who do not have UPD 15 have an imprinting defect.
This analysis can also be performed on samples that have been identified as having a marker chromosome
-15 on cytogenetic analysis.
UPD 15 Testing at WRGL
A panel of polymorphic microsatellite markers is used to determine the parent of origin of the patient’s chromosome 15's, the results of which can indicate UPD. Five of the markers are in the Prader-Willi/Angelman critical region and three are distal.
Cost, Sample Requirements & Turnaround Times
|UPD 15 analysis||$406||4 ml of whole blood in EDTA (purple top) from the patient and both parents||2 weeks|
*No direct charge for the central region DHBs covered by the Crown Funding Agreement