CORNELIA DE LANGE SYNDROME AND RELATED DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 38 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Cornelia de Lange and Related Disorders Panel analyzes 38 genes associated with cohesinopathies and other neurocognitive and craniofacial developmental disorders. These conditions are characterized by global developmental delay, distinctive facial features, short stature, congenital malformations, and intellectual disability of varying degrees. The included genes—such as NIPBL, SMC1A, SMC3, RAD21, HDAC8, BRD4, and KMT2D—are involved in chromatin regulation, gene transcription, and the organization of the cohesin complex, dysfunction of which produces phenotypes overlapping with Cornelia de Lange syndrome. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for confirmation of the molecular diagnosis, establishment of genotype-phenotype correlations, and guidance for family genetic counseling. Some of the genes included in this panel are NIPBL, SMC1A, SMC3, RAD21, HDAC8, and BRD4. You can consult the complete list of genes by contacting Genotica.
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