Logo

Prader-Willi syndrome

Australian Researchers Adapt Melt Curve Methylation Test for Infant Rare Genetic Disorder Screening
Premium

The test combines melt curve analysis and high-throughput, quantitative PCR to detect Prader-Willi, Angelman, and Dup15q syndromes in infants.

My Gene Counsel, Foundation for Prader-Willi Research Partner on Genetic Testing Study

My Gene Counsel will help safely and responsibly provide study results about pathogenic gene variants to participants, as well as genetic counseling and other services.

DNA Methylation Mapping in Genetic Syndromes Leads to Disease-Specific Episignatures

Researchers identified 34 episignatures that could be used for diagnostic testing and the interpretation of ambiguous genetic test results.

Complete Genomics' LFR Used to Identify MAGEL2 Mutation in Child with Prader-Willi Phenotype
Premium

Researchers from Baylor College of Medicine and Texas Children's Hospital have published a study in which Complete Genomics' whole-genome sequencing and long-fragment read analysis revealed a mutation in MAGEL2 as the likely cause of a child's Prader-Willi-like symptoms.

Genomics in the Journals: 2013.10.03

In Nature Genetics, researchers from Baylor College of Medicine, the University of Texas, and elsewhere described point mutations that can truncate an imprinted gene called MAGEL2,