GENERAL NOTES
Prader-Willi syndrome (PWS) and Angelman Syndrome (AS) are distinct neurogenetic disorders, both usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy (UPD). MS-MLPA can be used to detect copy number changes, as well as to detect aberrant methylation of one or more sequences of the Prader-Willi/Angelman region at 15q11.
Test: 15q11 critical region for Prader-Willi Syndrome and Angelman Syndrome (MS-MLPA)
Disease/s: Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS)
Region/Mutation analysed: Deletions and Uniparental Disomy affecting the PWS/AS critical region of chromosome 15q11
Method: Methylation Sensitive Multiplex-ligase Dependent Amplification (MS-MLPA)
Specimen: 5ml EDTA -whole blood
Shipping: Room temperature. (Please contact the laboratory +61 7 3163 8500 for instructions on shipping samples from outside of Australia).
Turn-around: 2-4 weeks.
Price: $232.50 (Please note this test may be covered by Medicare).
For more details about this test please refer to our website (http://pathology.mater.org.au/for-doctors/individual-gene-tests).
Shipping: Room Temperature (please contact the laboratory +61 7 3163 8500 for instructions on shipping samples from outside of Australia).
Address: Mater Pathology, Level 6, Mater Hospital Brisbane, Raymond Terrace, South Brisbane, QLD 4101, Australia.
Email: Molecular.Genetics@mater.org.au
