ELLIS-VAN CREVELD SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 2 genes

LabGenetics
Caja de ELLIS-VAN CREVELD SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 2 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de ELLIS-VAN CREVELD SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 2 genes

Ellis-van Creveld syndrome is a congenital chondroectodermal dysplasia characterized by disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia (abnormal nails and teeth), and congenital heart defects. It is primarily caused by pathogenic variants in the EVC and EVC2 genes, which encode essential proteins in the Hedgehog signaling pathway, critical for bone, dental, and cardiac development. This panel allows for confirmation of the clinical diagnosis, definition of the autosomal recessive inheritance pattern, and facilitates genetic counseling for affected families. Genes analyzed: EVC, EVC2.

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