FISH: Steroid Sulfatase Deficiency

Test Information

Titre
FISH: Steroid Sulfatase Deficiency
Catégorie
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Steroid Sulfatase Deficiency
Gene/Platform/Region List
STS, Xp11.31
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

Dernière Mise à Jour: 09 décembre 2025