ROBINOW SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Robinow syndrome is a genetic developmental disorder characterized by mesomelic dwarfism, typical facial dysmorphia (“fetal face”), vertebral anomalies, hypoplastic genitalia, and congenital heart defects. Autosomal dominant and recessive forms exist, caused by variants in genes involved in the WNT/planar cell polarity (PCP) signaling pathway and in the epigenetic regulation of development. This panel allows for molecular confirmation, differentiating between clinical and hereditary forms, thus optimizing multidisciplinary management and genetic counseling. Genes analyzed: DVL1, FGD1, KDM6A, KMT2D, MID1, NXN, ROR2, SPECC1L, TWIST1, WNT5A.
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