ARTHROGRYPOSIS - RENAL DYSFUNCTION - CHOLESTASIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Arthrogryposis, Renal Dysfunction, and Cholestasis panel analyzes the VPS33B and VIPAS39 genes, which are implicated in a hereditary multisystem syndrome characterized by congenital contractures (arthrogryposis), hepatic cholestasis, and renal abnormalities, known as ARC syndrome. These mutations affect vesicular trafficking and cell polarity, interfering with the function of hepatocytes, renal tubules, and neuromuscular development. Next-generation sequencing (NGS) analysis allows for the identification of pathogenic variants that explain the clinical presentation of this rare disorder.
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