Molecular Genetic Testing
Prader-Willi-/ Angelman-Syndrome

Indication and Diagnostic Value

Mental retardation disorders are characterized by severe hypotonia and poor suck at birth. PWS is the more common cause based on aberrations on paternal chromosomes. AS is associated with a more severe degree of mental retardation and is caused by changes on maternal chromosomes. The DNA methylation test proves the presence or absence of correct methylation patterns in respective loci on chromosome 15. If the test is positive, further analysis by microsatellite markers must reveal the molecular basis of aberration (deletion, uniparental disomy or imprinting errors).

Samples and Test Method

EDTA blood should be sent to our laboratory. A combination of methylation and microsatellite analysis provides high sensitivity and specificity of Diagnostic Values. The test sensitivity amounts to 99% for PWS, and 75% for Angelman.

Turnaround time for this test is 4 weeks.

→ list of Molecular Genetic Tests offered by IMMD

 


www.bccd.eu ©2007
All rights reserved.