Smith-Magenis syndrome

This disorder is due to a microdeletion of chromosome 17. Facial features such as a short flat head, prominent forehead, broad square face, upslanting eyeslits, deep-set eyes, broad nasal bridge, short nose, tented upper lip, and a chin that is small in infancy and becomes relatively prominent with age. In infancy there are feeding problems, failure to thrive, hypotonia, prolonged napping and lethargy. Later in childhood and adulthood there is mild to moderate mental retardation,attention deficit disorders, hyperactivity, frequent temper tantrums, disobedience, aggression, toileting difficulties, and self-injurious behaviors including self-hitting, biting, and skin picking.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 758.33

Test Requisition: Cytogenetics Requisition

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 10-14 days