RUBINSTEIN-TAYBI SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Rubinstein-Taybi Syndrome panel studies the molecular causes of this congenital disorder characterized by developmental delay, intellectual disability, distinctive facial features, broad thumbs and first toes, as well as a tendency toward heart defects and a predisposition to benign tumors. Pathogenic mutations in the CREBBP and EP300 genes disrupt transcriptional regulation and chromatin remodeling, fundamental mechanisms for embryonic development. Genetic testing allows for confirmation of the clinical diagnosis and provides appropriate family counseling. Genes analyzed: CREBBP, EP300.
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