FISH: Williams syndrome
Test Information
- Titre
-
FISH: Williams syndrome
- Catégorie
- Chromosomal Anomalies
- Test Name (CMS Title)
-
FISH: Williams Syndrome
- Gene/Platform/Region List
-
ELN, 7q11.23
- Test type
- Cytogenetic
- Samples Accepted
- Blood
- Indications
- Diagnostics, Carrier Cascade Testing
- 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)
Dernière Mise à Jour: 09 décembre 2025