MICRODELETION SYNDROMES

Vysis Prader-Willi/Angelman Region Probe - LSI D15S10 (SO)/Vysis CEP 15 (D15Z1) (SA)/PML (SG)

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The Vysis Prader-Willi/Angelman Region D15S10/CEP 15/PML FISH Probe Kit is intended to detect the large common deletion involving the D15S10 marker on chromosome 15q11-q13 using the fluorescence in situ hybridization (FISH) technique.

Deletion of a several megabase region within 15q11-q13 occurs in about 70% of patients with both Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS). The D15S10 STS marker which falls within the UBE3A gene lies within this commonly deleted region.1 The Vysis Prader-Willi/Angelman Region SpectrumOrange D15S10 probe has been used in publications to detect interstitial deletions of the 15q11-q13 region. SpectrumAqua CEP 15 and SpectrumGreen PML, when combined with D15S10, produced signals at the expected loci on both chromosome 15 homologs in over 200 metaphase cells including those from normal, 15q11-q13 interstitial deletion, and 15q11-q13 duplication specimens.

The approximately 180 kb (chr15:23083412-23263141; March 2006 assembly, UCSC Genome Browser) SpectrumOrange LSI D15S10 probe spans the UBE3A gene on chromosome 15q11-q13. The approximately 239 kb (chr15:71877721-72116436; March 2006 assembly, UCSC Genome Browser) SpectrumGreen LSI PML probe is located on chromosome 15q22-q24. The SpectrumAqua CEP 15 (D15Z1) probe located on chromosome 15p11.2.