CHARGE syndrome and differential diagnosis [67 genes]

CHARGE syndrome refers to the classic association of coloboma, heart defect, choanal atresia, growth and developmental delay, genital hypoplasia, and ear abnormalities (including deafness). However, other alterations typically identified in CHD7 mutation carriers are cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, and cerebral and renal anomalies.

CHARGE: 1 / 12,000-15,000 recién nacidos (ORPHA: 138).

Recommended service because the targeted exome is the most cost-efficient alternative to assess both the CHD7 gene and the genes typically involved in the differential diagnosis of the entity.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the early detection of associated comorbidities, thus allowing better symptomatic management.

Service indicated when the disease is suspected based on clinical and imaging findings.