FISH - Microdeletion detection for Williams syndrome

The elastin gene, ELN, has been mapped to 7q11.23 (Williams syndrome chromosome region, and is reportedly hemizygous in up to 96% of patients with WS. The deletion of an elastin gene locus cannot be detected by conventional high-resolution chromosome analysis in the vast majority of cases due to the small size of this deletion.

  • Test Type:
  • Pre-test Information:
    Clinical history mandatory.
  • Report Delivery:
    Sample Daily by 4 pm; Report 7 Days.
  • Components:
    0

Sample Report

microdeletion syndrome detection in other Cities