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.
Specimen Requirements
Prenatal
- Amniotic fluid: Minimum total specimen size 15 mL
- Chorionic villi: Minimum total specimen size 4 mg
Postnatal
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
Ordering Information
Shipping
- Ship at room temperature
- Ship to:
Sema4
62 Southfield Ave, Stamford, CT 06902
Phone: 800-298-6470 / Fax: 646-859-6870
Turnaround Time
- 6-10 days
Related Tests
Resources
Prenatal Test Requisition, including carrier screening and Noninvasive Prenatal Select
General Test Requisition
