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