COFFIN-SIRIS / COFFIN-SIRIS-LIKE SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 24 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Coffin-Siris syndrome and its related forms constitute a group of developmental disorders characterized by facial dysmorphisms, hypoplasia of the nails or distal phalanges, psychomotor developmental delay, intellectual disability, and malformations of the central nervous system. This panel analyzes genes belonging to the SWI/SNF complex, involved in chromatin remodeling and transcriptional regulation, whose alteration leads to a wide spectrum of overgrowth and neurodevelopmental syndromes. Genes analyzed: ARID1B, SMARCA4, SMARCB1, SOX11, ARID1A, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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