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: January 06, 2026