Indications

Individuals affected with Miller-Dieker syndrome are characterized by lissencephaly, mental retardation and a distinct facial appearance 

Collection Procedure

• Peripheral blood Collect whole blood in a green top tube (sodium heparin).  Label tube with patient’s name and date of birth.

A completed test requisition form must be included with every sample.  A transport kit is available upon request. 

Specimen Requirements

FISH analysis is performed following cytogenetic analysis 

Transport Temperature

Room temperature (DO NOT refrigerate, freeze or centrifuge)

Methodology

Fluorescence in situ hybridization is performed on metaphase chromosomes 

Causes for Rejection

Frozen specimen, inappropriate container

Turnaround Time

24-48 hrs after completion of cytogenetic analysis