Prader-Willi Syndrome (FISH Test)

Prader-Willi syndrome is characterized by significant infantile hypotonia and feeding difficulties. In early childhood this transitions into excessive eating and morbid obesity. Developmental delay and behavioral problems are common features. Physical characteristics include hypogonadism, short stature, small hands and feet, almond shaped eyes, and hypopigmentation. Prader-Willi syndrome is caused by the lack of expression of the paternally derived region of chromosome 15 (15q11.2-q13). This lack of expression can be caused by a deletion of the paternal chromosome, maternal uniparental disomy (UPD) of chromosome 15 or more rarely, a defect in the imprinting region. Southern blot analysis using methylation sensitive restriction enzymes can determine whether the patient has both maternally derived and paternally derived material in the critical region of chromosome.

Specimen  requirement - 2 ml of peripheral  blood collected in an heparin (green top) vacutainer tube. 

Reporting time - 15 days

For further information please contact:
Tel.: (+374 10) 544367
Fax: (+374 10) 544366

Գին՝ 35 000 AMD