Angelman Syndrome
Analysis ID 8
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Angelman Syndrome
OMIM #105830
Clinical information Angelman Syndrome is characterized mostly by neurological symptoms - mental retardation, ataxia, epilepsy, characteristic “puppet-like movements”, laughing with no reason. First symptoms of the disorders are noticeable after 6-9 months of age. Speech is usually absent of severely impaired.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes SNRPN; SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N;
Analysis description Analysis of the methylation pattern of SNRPN locus. MS-PCR method allows for detection of normal and aberrant SNRPN methylation pattern.
Analysis indication Mental retardation, dysmorphia with neurological signs, which may suggest appearance of this disorder
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics