A0228
Angelman / Prader-Willi Syndrome: Microdeletions 15q11-13
Test Details: Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome (PWS), Angelman syndrome (AS) and 15q11-q13 duplication syndrome (Dup15q syndrome). FISH helps in detection of AS/PWS caused by lack of expression of maternal or paternal genes at 15q11-q13. 70% cases result from deletion of 15q11-q13 region on one homologue of chromosome 15.
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Category
Cytogenetics
Pre-test Information
Clinical history is required.
Report Delivery
6 working days
Gender
All
Organ
Blood
Angelman / Prader-Willi Syndrome: Microdeletions 15q11-13
5000
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