SRY region, Yp11.3/Xp11.1q11.1
SOX gene, Sex determination, sex chromosome aneuploidy
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
Conventional cytogenetic evaluation is required for prenatal and newborn cases when aneuploidy FISH is requested (typically chromosomes X,Y,13,18 and 21). If the FISH result is abnormal, chromosome analysis can determine whether the abnormality is due to aneuploidy or a complex structural abnormality and will enable a more accurate recurrence risk for the family. If the FISH result is normal, a chromosome analysis allows identification of more complex abnormalities and the less common numeric abnormalities of other chromosomes.
This assay tests for the sex-determining region on the Y chromosome (SRY gene).
Geoffrey Howard Bourne, Kwang W. Jeon. (2000). SRY and SOX gene family. International Review of Cytology. 55-59.