GLOBAL DYSMORPHIC SYNDROMES: CLINICAL EXOME PANEL (Sec. & CNVs) - 687 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
This panel is designed for the genetic diagnosis of dysmorphic syndromes, a broad and heterogeneous group of congenital disorders characterized by distinctive facial features, multiple malformations, and growth and developmental abnormalities. It includes genes involved in organogenesis, cell differentiation, embryonic signaling, and cytoskeleton remodeling, encompassing conditions such as Kabuki syndrome, Cornelia de Lange syndrome, Coffin-Siris syndrome, Rubinstein-Taybi syndrome, Noonan syndrome, CHARGE syndrome, Treacher Collins syndrome, and other craniofacial and multiple malformation syndromes. This panel enables precise molecular diagnosis, facilitating comprehensive clinical management, prognostic guidance, and family genetic counseling. Genes analyzed include: ARID1B, KMT2D, CREBBP, CHD7, ANKRD11, AHDC1, EFTUD2, MED12, SMARCB1, EP300, and others. For a complete list of analyzed genes, please contact Genotica.
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