Genetic Test Details
FISH: Phelan-McDermid syndrome
Test Information
- Title
-
FISH: Phelan-McDermid syndrome
- Category
- Chromosomal Anomalies
- Sub Category
-
FISH: Phelan-McDermid Syndrome
- Gene/Platform/Region List
-
SHANK3, 22q13.33
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Amniocyte, CVS
- Indications
- Diagnosis, 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)
Last Updated: November 26, 2025