ANOPHTHALMIA / MICROPHTHALMIA / COLOBOMA: CLINICAL EXOME PANEL (Sec. & CNVs) – 126 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Anophthalmia, Microphthalmia, and Coloboma Panel is designed for the genetic study of congenital malformations of the eyeball, including complete absence of the eye (anophthalmia), reduced eye size (microphthalmia), and defects in eyeball closure (coloboma). These conditions may occur in isolation or be associated with multisystem syndromes involving neurological, craniofacial, or developmental impairment (e.g., CHARGE syndrome – CHD7, Meckel syndrome – MKS1, CEP290, or Fraser syndrome – FRAS1, FREM2). The panel includes genes involved in early eye development, eyeball morphogenesis, and retinal differentiation, enabling accurate diagnosis and the identification of hereditary or de novo causes, whether autosomal dominant, recessive, or X-linked. This study contributes to genetic counseling and comprehensive clinical management of the patient. Genes analyzed: SOX2, OTX2, PAX6, CHD7, MAB21L2, BMP4, RAX, STRA6, SHH, SIX3, and others. You can consult the complete list of genes analyzed by contacting Genotica.
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