Genetic Test Details | Ontario Health

Prader Willi syndrome

Test Information

Title: Prader Willi syndrome
Lab: Children's Hospital of Eastern Ontario
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

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