Article
Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
Genetic testing - 1 Jan 2007
van Hagen Johanna M, Eussen Hubertus J F M M, van Schooten Ron, van Der Geest Josef N, Lagers-van Haselen Gerardina C, Wouters Cokkie H, De Zeeuw Chris I, Gille Johan J P
Abstract excerpt
Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion. We investigated whether multiplex ligation-dependent probe amplification (MLPA) is a reliable alternative for FISH. The MLPA kit (SALSA P029) contains probes for eight genes in...
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