XL Williams-Beuren

Deletion Probe

Order Number
D-5418-050-OG
Package Size
50 µl (5 Tests)
Labels
  
Chromosome
7
Regulatory Status
IVDD

IVDR Certification

MetaSystems Probes has already certified a large part of its portfolio, according to IVDR. For organizational reasons, we currently provide only the IVDD product.

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Product Description

XL Williams-Beuren

XL Williams-Beuren consists of an orange-labeled probe hybridizing to the ELN/LIMK1 gene region at 7q11.23 and a green-labeled probe hybridizing to a region at 7p11.2.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

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Clinical Details

Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome with an estimated prevalence of 1:7.500 to 1:25.000 newborns. WBS phenotype is complex, age-dependent and varies between individuals. Newborns have characteristic ´elfin-like´ facial features with full cheeks, small head, flat nasal bridge, broad forehead, prominent open mouth, broad nose and puffiness around eyes and lips. Patients have a wide spectrum of features affecting the cardiovascular system, development and cognition, teeth, endocrine system, gastrointestinal tract, acoustic perception, nose and throat. One of the most fatal and characteristic complications is supravalvular aortic stenosis (SVAS).
WBS is associated with a chromosomal microdeletion in region 7q11.23. The common critical region is about 1.6Mb in size and contains more than 20 genes, including ELN (elastin) and LIMK1 (LIM domain kinase 1). Haploinsufficiency of ELN correlates with cardiovascular problems and is responsible for the SVAS phenotype of WBS patients. Deletions in region 7q11.23 are a consequence of non-allelic homologous recombination between low copy repeat elements flanking the WBS deleted region. Most WBS cases are sporadic, only few cases are transmitted vertically.

Clinical Applications

  • Microdeletion Syndrome (MicroDel)
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Images

XL Williams-Beuren

XL Williams-Beuren hybridized to lymphocytes. One normal metaphase is shown.

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Expected Patterns

Expected Pattern 1

Normal Signal Pattern:
Two green (2G) and two orange (2O) signals.

Expected Pattern 2

Aberrant Signal Pattern:
Two green (2G) and one orange (1O) signal resulting from loss of one orange signal.

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Literature

  • Wu et al (1998) Am J Med Genet 78:82-89
  • Bayés et al (2003) Am J Hum Genet 73:131-151
  • Jurado (2003) Horm Res 59 (suppl 1):106-113

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News

IVDR Certification

MetaSystems Probes has received IVDR certification for our initial 26 fluorescence in situ hybridization (FISH) probes from the notified body, BSI. Achieving this milestone was not without its challenges, and we are delighted to have accomplished IVDR certification for this probe set at an early stage.

IVDR Certification

New Probes Catalog is Online!

 

MetaSystems Probes is pleased to announce the new catalog including new and innovative products and supporting information. A PDF version of the new catalog is available for download here.

New Probes Catalog is Online!