Indications
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
- Amniotic fluid 15-20 ml. Discard the first 2 ml of fluid to reduce the risk of maternal cell contamination. Aseptically transfer the specimen into sterile plastic conical tubes labeled with patient’s name and date of birth.
- CVS 10-1-20 mg. Aseptically transfer the specimen into sterile plastic conical tubes containing sterile transport medium. 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)
Methodology
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