Angelman Syndrome (FISH Test)

Angelman syndrome is characterized by significant developmental delay or mental retardation, severe speech impairment, an ataxic gait, and inappropriate happy behavior including excessive laughing and smiling. Other physical concerns include microcephaly, seizures, wide mouth and a prominent mandible. Angelman syndrome is caused by the lack of expression of the maternally inherited region of chromosome 15 (15q11.2-q13). This lack of expression can be caused by a deletion of the maternal chromosome, paternal uniparentaldisomy (UPD), a mutation in the UBE3 gene in this region, or an imprinting defect. 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  heparin (green top) vacutainer tube. 

Reporting time - 15 days

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

Цена: 35 000 AMD