Congenital anomalies of the kidney and urinary tract (CAKUT) [62 genes]

Congenital anomalies of the kidney and urinary tract (CAKUT) are a broad group of disorders involving altered nephron formation, abnormal embryonic ascent of the kidney, and alterations in the development of the collecting system. The most frequent characteristic is urinary tract dilation (about 28%).

Many CAKUTs are associated with multi-organ syndromes but are mostly observed in non-syndromic patients. There is a monogenic cause in up to 18% of patients with CAKUT, usually with an autosomal dominant inheritance pattern.

The diagnosis can be challenging due to the phenotypic and genotypic heterogeneity and incomplete penetrance observed in CAKUT.

3-6/1,000 (ADPKD)

Identifying genetic variants causing CAKUT allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when CAKUT is suspected, which may include the following clinical characteristics:

• Kidney dysplasia
• Kidney hypoplasia
• Renal agenesis
• Renal tubular dysgenesis
• Cystic diseases
• Renal ectopia
• Fusion defect
• Alterations of the pyeloureteral junction, ureter, bladder, and urethra