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, Cultured Cells, Amniocyte, 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: 05 septembre 2025