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Steroid Sulfatase Deficiency deletion Xp22, x-linked ichthyosis by FISH*

Test Code

F STS*

Test Synonyms

del(X)(p22.32), X-linked ichthyosis

Associations

STS/CEP X

Methodology

Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL whole blood, sodium heparin

Specimen Stability
Stable 4-25°C for 72 hours
Storage & Handling

Protect from extreme temperature. Ship with cool pack (refrigerated). Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.

Causes for Rejection

Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells

Reference Range

See report

It is recommended that all FISH studies be done in conjunction with routine cytogenetic studies. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities.

Description

X-linked recessive ichthyosis is caused by a deletion of the steroid sulfatase gene located on the X chromosome at the p22.3 location. The abnormality is seen more in males and affects approximately 1 in 6,000.

References

NCBI steroid sulfatase deficiency, ichthyosis, x-linked.