RENAL TUBULAR DYSGENESIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes

The Renal Tubular Dysgenesis panel is designed for the genetic diagnosis of a rare but serious kidney developmental disorder characterized by defective differentiation of the proximal tubules and a marked reduction in the number of functional nephrons. This condition is frequently associated with oligohydramnios, pulmonary hypoplasia, neonatal renal failure, and high perinatal mortality. In surviving cases, it can manifest as chronic kidney disease, hyponatremia, or persistent hypotension. The panel includes genes involved in the renin-angiotensin pathway (ACE, AGT, AGTR1, REN), which are essential for the normal development of the fetal excretory system and intrauterine renal perfusion. Mutations in these genes disrupt the vasoactive signaling necessary for tubular differentiation, resulting in autosomal recessive or dominant renal tubular dysgenesis. Molecular identification of pathogenic variants allows for diagnosis confirmation in fetuses or newborns with suspected cases based on ultrasound or clinical findings, differentiation from other inherited nephropathies, and facilitates genetic counseling and reproductive planning for affected families. Key genes analyzed: ACE, AGT, AGTR1, REN, and others. A complete list of analyzed genes can be obtained by contacting Genotica.