Individuals affected with Miller-Dieker syndrome are characterized by lissencephaly, mental retardation and a distinct facial appearance
- 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.
FISH analysis is performed following cytogenetic analysis
Room temperature (DO NOT refrigerate, freeze or centrifuge)
Fluorescence in situ hybridization is performed on metaphase chromosomes
Causes for Rejection
Frozen specimen, inappropriate container
24-48 hrs after completion of cytogenetic analysis