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.Angelman syndrome is a neurodevelopmental disorder characterized by severe motor and mental retardation, microcephaly, ataxia, jerky limb movements such as hand flapping, hyperactivity, seizures, absence of speech, frequent smiling and outbursts of laughter, and unusual facial features, characterized by a large mouth and jaw, an open-mouthed expression, with a great propensity for protruding the tongue.Mutations on the CHD7 gene (located on Chromosome 8) have been identified in patients with CHARGE syndrome.
Methodology: Sequencing of entire coding region of the CHD7 gene
Deletion/Duplication analysis is also available for this gene.
Purpose: Confirmation of Clinical Diagnosis
Detection Frequency: ~99%
Turn-Around-Time: 5 weeks
Specimen Requirements: 2-5 ml Blood- EDTA tube (Lavender Top)
For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.
OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104
Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514
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