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CHARGE Syndrome

  • CHD7 (Chromodomain Helicase DNA-binding Protein 7)
Individuals with CHARGE Syndrome (aka CHARGE Association) have a constellation of birth defects which include coloboma of the eye and other developmental eye anomalies, congenital heart defects, choanal atresia or stenosis, mental and growth retardation, and ear anomalies. Other significant features include congenital heart defects, characteristic facies and hands. The features in CHARGE syndrome are variable in expression and presentation (see http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800) for details. CHARGE syndrome is an autosomal dominant condition affecting males and females equally. Most cases of CHARGE syndrome arise de novo, however parents of affected individuals may be carriers. The recurrence risk for unaffected parents is approximately 1-2%. Many patients with CHARGE syndrome have a microdeletion at 8q12.1. Of those in whom a microdeletion is not detected, 59% have a mutation detectable by sequence analysis in the CHD7 gene. Published mutations in CHD7 are scattered throughout the gene and include missense, nonsense, and splicing mutations.

Using genomic DNA obtained from buccal brushes (GeneDx kits only) or blood (1-5 mL in EDTA), the entire coding region of the CHD7 gene (38 exons) is obtained and analyzed using bi-directional sequencing. Carrier detection in relatives and prenatal diagnosis is available once the mutation in a family has been defined.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
CHARGE, association, coloboma, heart, choanal atresia, retardation, genital, ear, CHD7, deletion, cleft, hypotonia, palmer crease, anomalies, CHD

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