Indications For Smith-Magenis Syndrome
Smith-Magenis syndrome in adults and children is characterized by a flattened mid-face, down-turned mouth, hypotonia, short, broad hands, mental retardation, chronic sleep disturbance and self-injurious behavior. Individuals affected with Smith-Magenis syndrome have a normal life expectancy
- 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)
Laboratory Testing for Smith-Magenis Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ hybridization targeting chromosome 17.
Causes for Rejection
Frozen specimen, inappropriate container
24-48 hrs after completion of cytogenetic analysis