Steroid Sulfatase Deficiency

Indications For Steroid Sulfatase Deficiency

Steroid Sulfatase Deficiency (X-linked Ichthyosis) is a genetic disorder that causes an X-linked form of Ichthyosis.  Individuals affected with X-linked Ichthyosis have a variable presentation characterized by dry, scaly skin, sparse hair and conical teeth in affected males. Low estriol on a maternal serum screen during pregnancy.

Collection Procedure

  • Peripheral blood: collect whole blood in a green top tube (sodium heparin). Label tube with patient’s name and date of birth.

A completed test requisition form must be included with every sample.  A transport kit is available upon request.

Specimen Requirements

FISH analysis is performed following cytogenetic analysis

Transport Temperature

Room temperature (DO NOT refrigerate, freeze or centrifuge)


Laboratory Testing for Steroid Sulfatase Deficiency Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome x.

Causes for Rejection

Frozen specimen, inappropriate container

Turnaround Time

24-48 hrs after completion of cytogenetic analysis