Directory of tests
For more information on prices, please contact the West Midlands Regional Genetics Laboratory:
- +44(0)121 335 8036
- bwc.genetics.lab@nhs.net
For referral information, please see the West Midlands Regional Genetics Laboratory page.
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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