Williams syndrome

A genetic disorder characterized by mental retardation which can range from mild to severe. Personality features such as overfriendliness, general anxiety, and attention deficit disorder. Facial features include narrow forehead, fullness about the eyes, short nose, flat midface, full lips, wide mouth, small jaw, and prominent earlobes. Narrowing of the aorta, just above the valve, is the most common and important cardiovascular abnormality. Hypercalcemia and hypercalciuria are also seen in patients with this syndrome.

Williams syndrome is inherited in an autosomal dominant manner and is due to a small chromosome deletion. Most cases are new occurrences but parent-to-child transmission is known. The region deleted is from chromosome 7 (band 7q11) and includes the ELN gene. The syndrome is due not only to the loss of ELN but to a loss of a series of adjacent genes.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Sequencing can also be performed for this disorder

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 758.89

Test Requisition: Cytogenetics Requisition

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

Turn-around-time: 10-14 days