Renal tubular dysgenesis [4 genes]

Renal tubular dysgenesis (RTD) is a severe disease that causes intrauterine fetal demise or early neonatal death due to absent 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 is of great help for identifying the degree of pathogenicity of the mutations and determining disease lethality, as well as for genetic counseling.

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

Prevalence: Unknown

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

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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.