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 , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , 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