FISH: Saethre-Chotzen

Test Information

Title
FISH: Saethre-Chotzen
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Saethre-Chotzen Syndrome
Gene/Platform/Region List
TWIST1, 7p21.2
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3)

Last Updated: November 14, 2025

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