Alport syndrome [6 genes]

Alport syndrome is a genetic disease with a wide spectrum of phenotypes, ranging from isolated forms of non-progressive or slowly progressing hematuria to severe formswith multisystem manifestations and renal failure in the absence of treatment. Among the genetic causes of Alport syndrome, defects can be found in genes with X-linked (65%), autosomal dominant (20%) y autosomal recessive (15%).The diagnosis of this disease is established via the identification of pathogenic variants in some of the genes associated with the disease, and genetic counseling and management greatly depend on the result of the genetic test.

  • Hematuria (100% of cases)
  • Proteinuria
  • Hypertension
  • Kidney failure, glomerulonephritis, glomerulosclerosis
  • High-frequency hearing loss, lenticonus

Prevalence: 1-9/100,000

  • Angiotensin-converting enzyme inhibitors
  • Angiotensin receptor blockers
  • Interventions and transplantation in specific cases
  • Genetic counseling

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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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Alport syndrome

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008451

Alport syndrome: View panel
  • CD151
  • COL4A3
  • COL4A4
  • COL4A5
  • COL4A6
  • MYH9

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. Kashtan CE. Alport Syndrome. 2001 Aug 28 [updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. PubMed PMID: 20301386.
  2. Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Review. PubMed PMID: 30128941; PubMed Central PMCID: PMC6510800.
  3. Torra R, Furlano M. New therapeutic options for Alport syndrome. Nephrol Dial Transplant. 2019 Aug 1;34(8):1272-1279. doi: 10.1093/ndt/gfz131. PubMed PMID: 31190059.