Miller-Dieker syndrome, Lissencephaly, Neuronal migration defects
Fluorescence in situ Hybridization (FISH)
*performed by affiliate laboratory
5.0 mL (min. 3.0 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 or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative
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.
Miller-Dieker syndrome is caused by a deletion on the short arm of chromosome 17, specifically a deletion of the LIS1 gene.