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

Turnaround Time

  • 7-10 days


Resources

Prenatal Test Requisition with Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition