Prader-Willi Syndrome
Analysis ID 9
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Prader-Willi Syndrome
OMIM #176270
Clinical information Clinical phenotype consists of short stature, mental retardation, hypogonadism , and obesity. PWS is one of the most common genetic cause of obesity (frequency 1:10000-1:25000 live births)
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
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics