ROBINOW SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Robinow Syndrome panel analyzes the genetic causes of this skeletal and craniofacial developmental disorder characterized by short stature, facial dysmorphia with a prominent forehead, short nose, midfacial hypoplasia, hypogenitalism, and vertebral anomalies. The identified mutations affect genes involved in the WNT/planar cell polarity signaling pathway, essential for morphogenesis and endochondral ossification. Analysis using massive parallel sequencing allows for diagnosis confirmation, differentiation between autosomal dominant and recessive forms, and guidance in genetic and reproductive counseling. Genes analyzed include: ROR2, DVL1, WNT5A, FGD1, KMT2D, and others. You can consult the complete list of analyzed genes by contacting Genotica.
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