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Saethre-Chotzen/Williams-Beuren Combination Probe

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  • Specification
  • Review & FAQ
  • Recommended Products
  • Cat.No.
  • FMDC-35
  • Description
  • Saethre-Chotzen is one of the most frequent syndromes in congenital malformation. It is characterized by craniofacial and limb abnormalities and the incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births. This autosomal dominant disorder is one of the most difficult to detect, and the identification of the causative gene TWIST1, a transcription factor on chromosome band 7p21.1, has proved invaluable for the detection.
    Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion within band 7q11.23. WBS displays connective tissue problems; typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for SVAS.
  • Size
  • 5 Tests, 10 Tests
  • Label
  • Red/Green
  • Locus
  • 7p21.1/7q11.23
  • Specificity
  • Human
  • Storage
  • Store at minus 20 centigrade
  • Usage
  • warningFor Research Use Only. Not for use in diagnostic procedures.

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    • USA
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      Tel: 1-631-626-9181
      Fax: 1-631-614-7828
      Email: info@creative-bioarray.com
      Europe
      Tel: 44-207-097-1828
      Email: info@creative-bioarray.com
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Contact Us
USA
45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-bioarray.com

Europe
Tel: 44-207-097-1828
Email: info@creative-bioarray.com