Miller-Dieker Syndrome (MDS)

Indications for Miller-Dieker Syndrome (MDS)

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)


Laboratory Testing for Miller-Dieker syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome 17.

Causes for Rejection

Frozen specimen, inappropriate container

Turnaround Time

24-48 hrs after completion of cytogenetic analysis