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

  • Prenatal: 14-21 days
  • Postnatal: 6-10 days

 

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