t(11;17) Miller Dieker Syndrome

DESCRIPTION – Miller Dieker syndrome is a rare genetic disorder that causes the outer part of your child’s brain to be smooth. Their brain doesn’t have the usual complex folds, wrinkles and grooves. A child with Miller-Dieker syndrome can have physical symptoms at birth

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 3-10 days

SPECIMEN REQUIERED –

COLLECT – green (sodium heparin) or Non diluted bone marrow aspirate

SPECIMEN PREPARATION – transport 5 ml whole blood to green (sodium heparin)

STORAGE/TRANSPORT TEMPERATURE – room temperature

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITION – paraffin embedded specimens and clotted specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory