CHARGE syndrome

CHARGE syndrome is a constellation of congenital malformations. The name of the condition is an acronym of some of the most common features:

C = Coloboma of the eye and Cranial nerve abnormalities,
H = Heart malformation,
A = Choanal Atresia (blockage of the nasal passageways),
R = Retardation of growth after birth and Retardation of development,
G = Genital hypoplasia (underdevelopment) in males and urinary tract malformations,
E = Ear malformations and/or deafness.

In addition, there may be cleft lip or palate; small chin; facial palsy; and esophageal atresia. Other problems reported in children with the CHARGE association include abnormally small head, drooping of the eyelids, trouble breathing (due to the choanal atresia), feeding problems in infancy, omphalocele, anal stenosis or blockage, and deficiency of growth hormone. Children with the CHARGE association may die in the newborn period or later in childhood. Children who survive usually show some degree of mental deficiency. The range of the mental handicap is very broad. Most children with the CHARGE association have no family history of the disorder. Many patients with CHARGE have a mutation in the CHD7 gene on chromosome 8q12.2.

Sequencing is the first tier test for this disorder. If no mutation is found we recommend FISH as the second tier test.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

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