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
Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
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: November 26, 2025