Prader-Willi Syndrome - UPD

Test Information
Test Name Prader-Willi Syndrome - UPD
Lab (Location) The Hospital for Sick Children
Category Chromosomal Anomalies
Subcategory Uniparental Disomy: Angelman Syndrome/Prader Willi Syndrome
Gene/Platform/Region List Chromosome 15, SNRPN
Test type Cytogenetic
Samples Accepted Blood, DNA, DNA (Not Accepted for MLPA)
Indications Diagnosis Diagnosis, Prenatal
Test Methodology UPD
Methodology Notes UPD15 Analysis
Diseases/Conditions UPD15, Prader Willi Syndrome
Notes DNA and CVS not accepted for MS-MLPA

Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.