Genetic Test Details
FISH: Williams syndrome
Test Information
- Title
-
FISH: Williams syndrome
- Category
- Chromosomal Anomalies
- Sub Category
-
FISH: Williams Syndrome
- Gene/Platform/Region List
-
ELN, 7q11.23
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Amniocyte, CVS
- Indications
- Diagnosis, Carrier Cascade Testing, Prenatal
- Test Methodology
- FISH
- Methodology Notes
-
Metaphase 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