Steroid Sulfatase Deficiency FISH Analysis
Related Gene(s): STS
Steroid sulfatase deficiency (or X-linked ichthyosis) FISH (fluorescence in situ hybridization) of the STS gene is offered for diagnostic evaluation of individuals with clinical features of X-linked ichthyosis, such as scaling of the skin, particularly on the neck, trunk, and lower extremities. In the prenatal setting, a very low uE3 level in maternal serum can be indicative of an affected fetus.
- Amniotic fluid: Minimum total specimen size 15 mL
- Chorionic villi: Minimum total specimen size 4 mg
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
- Ship at room temperature
- 7-10 days