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Prader Willi syndrome
Test Information
- Title
-
Prader Willi syndrome
- Category
- Neurodevelopmental
- Test Name (CMS Title)
-
Prader Willi syndrome
- Gene/Platform/Region List
-
15q11-q13
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Methodology Notes
-
Methylation-specific MLPA assay
- Disease/Condition
-
Prader Willi syndrome (PWS), HHHO (hypogonadism, hypotonia, hypomentia, obesity), Prader-Labhart-Willi syndrome
Last Updated: December 09, 2025
