Genetic testing

Angelman Syndrome

Angelman Syndrome
Test code: ANGEL-1

Analysis of a methylation pattern and deletions in the 15q11-q13 region (MLPA)

Turnaround time: up to 8 weeks

Price:  990.00 zł
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We perform genetic testing from:

Ikona opcji  venous blood collected

Angelman Syndrome

Angelman syndrome (AS) is most often caused by a physical or functional lack of the 15q11-13 region on the chromosome inherited from the mother, which results from mutations of various types: region deletion on the maternal chromosome (65-75% of the cases), uniparental disomy of chromosome 15 (3-7%), and regulatory mutations known as “imprinting mutations” (1-3%). All the defects mentioned above distort the pattern of the parental genomic imprinting in the genes that are influenced by this mechanism of expression regulation and that are located in the 15q11-13 region.

In 10-11% of Angelman syndrome cases, the disease may also be caused by point mutations in the UBE3A gene, which do not distort the pattern of the parental genomic imprint. Clinical cases of AS with mutations in the MECP2 and CDKL5 genes have also been documented. Approximately 10-15% of AS patients suffer from the disease for unknown reasons (an unidentified molecular defect).
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