GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
Amniocyte
CVS
GTD Test Methodology
FISH
GTD Methodology Notes
Metaphase FISH
GTD Notes
Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.
Generic Test name (cms title)
FISH: Saethre-Chotzen Syndrome
GTD Test type
Cytogenetic
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
TWIST1, 7p21.2
GTD Category
Chromosomal Anomalies
GTD Disease/Condition
Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3)