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FISH for CHARGE syndrome


Gene Reviews

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 CHARGE syndrome 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 CHARGE syndrome 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 CHARGE syndrome have no family history of the disorder.Very few people with CHARGE will have 100% of its known features.

Mutations on the CHD7 gene (located on Chromosome 8) have been identified in patients with CHARGE syndrome

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code Q89.8

Test Requisition: Cytogenetics Requisition

Turn-around-time: 10-14 days

Specimen Requirements

Shipping Information


1. Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association". J. Pediatr. 99 (2): 223–7.

2. Hall BD (1979). "Choanal atresia and associated multiple anomalies". J. Pediatr. 95 (3): 395–8.

3. Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de Vries, B. B., Janssen, I. M., et al. (2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.". Nature Genetics 36 (9): 955–957.

4. Zentner GE, Layman WS, Martin DM, Scacheri PC (2010). "Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome". Am J Med Genet A 152 (3): 674–686.

5. Janssen, N; Bergman, JE; Swertz, MA; Tranebjaerg, L; Lodahl, M; Schoots, J; Hofstra, RM; van Ravenswaaij-Arts, CM; Hoefsloot, LH (2012). "Mutation update on the CHD7 gene involved in CHARGE syndrome.". Human mutation 33 (8): 1149–1160.

Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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