FISH, Smith-Magenis Syndrome

Test Description:
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%.

Specimen Requirements:
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]

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