del(X)(p22.32), X-linked ichthyosis
Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory
5.0 mL whole blood, sodium heparin
Protect from extreme temperature. Ship with cool pack (refrigerated). Ship on Saturday for Monday delivery only if sample is protected from extreme temperature.
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
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.
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.