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

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
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

Turnaround Time

24-48 hrs after completion of cytogenetic analysis