Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
Genes
Clinical diagnosis of CHARGE syndrome requires 4 major signs or 3 major signs along with 3 minor signs:
Major signs:
- Coloboma Choanal atresia
- Characteristic ear abnormalities
- Cranial nerve dysfunction
Minor signs:
- Genital hypoplasia
- Developmental delay
- Orofacial cleft
- Growth deficiency
- Cardiovascular malformations
- Tracheoesophageal fistula
- Distinctive facial features
Detectable mutations or deletions in the CHD7 gene account for approximately 65% of patients with CHARGE syndrome. Up to 10% of patients are found to have a microdeletion, while approximately 53-65% are found to have a heterozygous mutation in CHD7.