Prader-Willi syndrome

Prader-Willi syndrome is associated with hypotonia in infancy, characteristic facial features and behaviors, and intellectual disability. Genetic testing may confirm a diagnosis, as well as determine the molecular cause of the condition. A molecular diagnosis assists with treatment options, recurrence risk, and genetic counseling for the family. 


Quick Reference
Test Code 2440
Turnaround Time (TAT) 7-14 days
Number of Genes 1
Specimen Requirements Click here

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Mutation Detection Rate

This test can detect >99.9% of methylation abnormalities of 15q11-13, when present (analytic sensitivity). 

Test Description

Methylation and copy number analysis to assess the presence or absence of the paternal copy of the 15q11.2-q13 chromosomal region associated with Prader-Willi syndrome is performed using methylation specific multiplex ligation probe amplification analysis (MS-MLPA, MRC-Holland kit# ME028-B2). This analysis can also detect the absence of the maternal copy of the 15q11.2-q13 chromosomal region, which is associated with Angelman syndrome.

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