Genetic Test Details

Constitutional FISH panel: Williams Syndrome

Test Information

Title
Constitutional FISH panel: Williams Syndrome
Category
Chromosomal Anomalies
Sub Category
FISH: Williams Syndrome
Gene/Platform/Region List
ELN
Test type
Cytogenetic
Samples Accepted
Skin Punch , Blood , Products of Conception , Cultured Cells , CVS , Amniocyte
Indications
Diagnosis , Prenatal
Test Methodology
FISH
Methodology Notes
Constitutional FISH
Disease/Condition
Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

Last Updated: June 23, 2025