Autism-World

Direct detection involves Southern blot analysis to identify the origin of mutation by detecting differences in methylation within the AS critical region using the methylation sensitive SNRPN probe.

A paternal-only pattern is diagnostic for AS. For methylation positive AS cases, additional analyses including FISH and UPD studies may be considered to determine the mutational mechanism for genetic counseling purposes.

A negative study does not rule out the diagnosis of AS since approximately 80% of patients are diagnosed with the methylation assay. AS patients who test negative by methylation studies may be candidates for UBE3A Sequence Analysis.

Technorati : Angelman syndrome

This entry was posted on Saturday, September 1st, 2007 at 3:43 pm and is filed under Angelman Syndrome.