Genetic Test Details
Constitutional FISH panel: Williams Syndrome
Test Information
- Titre
-
Constitutional FISH panel: Williams Syndrome
- Catégorie
- 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
- Diagnostics , 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)
Dernière Mise à Jour: 18 juin 2025