Smith Magenis Syndrome
Smith-Magenis syndrome FISH (Fluorescence In Situ Hybridization) is offered for diagnosis of individuals with clinical features of Smith-Magenis syndrome (intellectual disability, cognitive impairment problems, including sleep disturbances and self-mutilating behaviors). The detection rate of FISH analysis for this disorder is approximately 99%.
Whole blood in sodium heparin (green top) tube: minimum 5-10 ml
Shipping: Samples should be received on day of collection. Keep specimens at room temperature.
Turnaround Time: 7-10 days
CPT Codes: 88230, 88271x2, 88274, 88291
Consent Form: Peripheral Blood Chromosomes and FISH Consent [PDF]
Requisition Form: General Test Requisition [PDF]
Related Tests: Prenatal Microdeletion FISH Panel