Directory of tests

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Angelman syndrome

Angelman syndrome

TESTING STRATEGY

Molecular analysis by methylation sensitive bisulphite MLPA (MS-MLPA) to identify aberrant methylation of the SNRPN region on chromosome 15 caused by either a deletion, uniparental disomy (UPD15) or imprinting centre defect.

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA or DNA
  • 2 weeks

FURTHER INFORMATION / LINKS