Genetic Test Details
Prader Willi syndrome
Test Information
- Titre
-
Prader Willi syndrome
- Catégorie
- Neurodevelopmental
- Sub Category
-
Prader Willi syndrome
- Gene/Platform/Region List
-
15q11-q13
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Amniotic Fluid, Chorionic Villi, Cultured cells - amniocytes or CVS
- Indications
- Diagnostics, 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
Dernière Mise à Jour: 04 juin 2026
