Smith Magenis Syndrome FISH Analysis

Test Description:
Smith-Magenis syndrome, chromosome location 17p11.2, 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

This test can also be performed on prenatal specimens; see test "Prenatal Microdeletion FISH Panel"

Shipping: Sihp at room temperature.

Turnaround Time: 7-10 days

CPT Codes: 88230, 88271x2, 88274, 88291

Consent Form: Postnatal Consent [PDF]

Requisition Form: General Test Requisition [PDF]