FISH: Phelan-McDermid syndrome
Test Information
- Titre
-
FISH: Phelan-McDermid syndrome
- Catégorie
- Chromosomal Anomalies
- Test Name (CMS Title)
-
FISH: Phelan-McDermid Syndrome
- Gene/Platform/Region List
-
SHANK3, 22q13.33
- Test type
- Cytogenetic
- Samples Accepted
- Blood
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- FISH
- Disease/Condition
-
Phelan-McDermid syndrome (Phelan-McDermid syndrome, 22q13.3 Deletion Syndrome, Chromosome 22q13.3 Deletion Syndrome, Deletion 22q13 Syndrome)
Dernière Mise à Jour: 04 juillet 2025
