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GTR Home > Tests > Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

  • GTR Test IDHelp: GTR000530716.22
  • Last updated: 2023-06-19
  • Test version history

Clinical testHelp for Renal hypodysplasia/aplasia 3
Offered by PreventionGenetics

Indication

This is a clinical test intended for Help: Pre-symptomatic, Screening, Mutation Confirmation, Risk Assessment, Diagnosis

Clinical summary

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Imported from OMIM

RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities, including uterovaginal and ovarian agenesis. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017, Sanna-Cherchi et al., 2017, and Herlin et al., 2019). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Hydronephrosis
  • Vesicoureteral reflux
  • Horseshoe kidney
  • Congenital uterine anomaly
  • Renal agenesis
  • Renal dysplasia
  • Multicystic kidney dysplasia
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Conditions tested

Target population

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Candidates for this test are patients with the CAKUT spectrum. This test especially aids in a differential diagnosis of similar phenotypes by analyzing multiple genes simultaneously.

Citations

Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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