Constitutional FISH panel: Williams Syndrome

Test Information

Title
Constitutional FISH panel: Williams Syndrome
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Williams Syndrome
Gene/Platform/Region List

ELN

Test type
Cytogenetic
Samples Accepted
Blood, Products of Conception, Skin Punch
Indications
Diagnosis
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 14, 2025

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