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 5-15 ml. 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
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