FISH: Phelan-McDermid syndrome

Test Information

Title
FISH: Phelan-McDermid syndrome
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Phelan-McDermid Syndrome
Gene/Platform/Region List
SHANK3, 22q13.33
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnosis, Carrier Cascade Testing
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 14, 2025

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