Genetic Test Details
FISH: Saethre-Chotzen
Test Information
- Title
-
FISH: Saethre-Chotzen
- Category
- Chromosomal Anomalies
- Sub Category
-
FISH: Saethre-Chotzen Syndrome
- Gene/Platform/Region List
-
TWIST1, 7p21.2
- Test type
- Cytogenetic
- Samples Accepted
- Blood, Amniocyte, CVS
- Indications
- Diagnosis, Carrier Cascade Testing, Prenatal
- 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 26, 2025