Genetic Test Details
FISH: Phelan-McDermid syndrome
Test Information
- Titre
-
FISH: Phelan-McDermid syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
FISH: Phelan-McDermid Syndrome
- Gene/Platform/Region List
-
SHANK3, 22q13.33
- Test type
- Cytogenetic
- Samples Accepted
- Blood , Amniocyte , CVS
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- Test Methodology
- FISH
- Methodology Notes
-
Metaphase 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: 18 juin 2025