Genetic Test Details

Prader Willi syndrome

Test Information

Title
Prader Willi syndrome
Category
Neurodevelopmental
Sub Category
Prader Willi syndrome
Gene/Platform/Region List
15q11-q13
Test type
Single Gene
Samples Accepted
Blood , DNA , Cultured Cells , Amniocyte , CVS
Indications
Diagnosis , Carrier Cascade Testing , Prenatal
Test Methodology
CNV
Methodology Notes
Methylation-specific MLPA assay
Disease/Condition
Prader Willi syndrome (PWS), HHHO (hypogonadism, hypotonia, hypomentia, obesity), Prader-Labhart-Willi syndrome

Last Updated: June 23, 2025