Renal tubular dysgenesis [4 genes]

Renal tubular dysgenesis (RTD) is a severe disease that causes intrauterine fetal demise or early neonatal death due to the absence or poor differentiation of proximal tubules in the kidney. Consequently, oligohydramnios or anhydramnios are observed during fetal development, decreasing the amount of amniotic fluid and leading to hypotension, poor ossification of cranial sutures, Potter sequence, arthrogryposis, and pulmonary hypoplasia. RTD can be acquired during fetal development due to the ingestion of certain drugs by the mother; it may also have a genetic origin caused by defects in genes of the renin-angiotensin-aldosterone system, following an autosomal recessive pattern of inheritance. There are only a few cases reported in the scientific literature in which individuals survived thanks to kidney transplantation, peritoneal dialysis, and vasopressin therapy. Most of these cases were compound heterozygous carriers. Genetic testing helps identify the degree of pathogenicity of the mutations, determine disease lethality, and for genetic counseling.

Unknown

  • Genetic counseling
  • Early diagnosis
  • Kidney transplant, dialysis, vasopressin therapy

Identifying genetic variants causing renal dysgenesis 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 there is suspected renal dysgenesis that may include the following clinical characteristics:

  • Potter sequence
  • Oligohydramnios
  • Renal tubular dysgenesis
  • Pulmonary hypoplasia

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Renal tubular dysgenesis

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008444

Renal tubular dysgenesis: View panel
  • ACE
  • AGT
  • AGTR1
  • REN

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Ma GC, Chen YC, Wu WJ, Chang SP, Chang TY, Lin WH, Chen M. Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the AGT Gene. Diagnostics (Basel). 2019 Nov 11;9(4). pii: E185. doi: 10.3390/diagnostics9040185. PubMed PMID: 31718018; PubMed Central PMCID: PMC6963964.
  2. Kim SY, Kang HG, Kim EK, Choi JH, Choi Y, Cheong HI. Survival over 2 years of autosomal-recessive renal tubular dysgenesis. Clin Kidney J. 2012 Feb;5(1):56-8. doi: 10.1093/ndtplus/sfr153. Epub 2012 Jan 28. PubMed PMID: 26069751; PubMed Central PMCID: PMC4400456.
  3. Das Bhowmik A, Dalal A, Tandon A, Aggarwal S. Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. J Obstet Gynaecol Res. 2018 Dec;44(12):2181-2185. doi: 10.1111/jog.13771. Epub 2018 Jul 29. PubMed PMID: 30058238.