Primary hyperoxaluria [3 genes]

Oxalate originates mainly endogenously (glycine, hydroxyproline, and glycolate metabolism). Primary hyperoxaluria is an autosomal recessive metabolic disorder characterized by excessive production of oxalate, with deposition in tissues (especially in the kidney).

There are different types:

  • Type I, due to deficiency of the hepatic peroxisomal enzyme alanine-glycolate aminotransferase (encoded by AGXT)
  • Type II, due to deficiency of the cytosolic enzyme glyoxalate/hydroxypyruvate reductase (GRHPR)
  • Type III, due to deficiency of the enzyme 4-hydroxy-2-oxoglutarate aldolase (encoded by HOGA1)

1-3/1,000,000

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

This panel is indicated when primary hyperoxaluria syndrome is suspected, which may include the following clinical characteristics:

  • Recurrent renal lithiasis
  • Nephrocalcinosis
  • Early terminal renal failure
  • Massive deposition of calcium oxalate in tissues (oxalosis)

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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4. Send the sample & the request

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5. Result: the report

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Primary hyperoxaluria

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906671

Primary hyperoxaluria: View panel
  • AGXT
  • GRHPR
  • HOGA1

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. Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013 Nov 28;369(22):2168. PMID: 23944302 DOI: 10.1056/NEJMra1301564
  2. Lorenzo V, Torres A, Salido E. Hiperoxaluria primaria. Nefrologia. 2014 May 21;34(3):398-412. doi: 10.3265/Nefrologia.pre2014.Jan.12335. Epub 2014 Apr 30. PMID: 24798559 DOI: 10.3265/Nefrologia.pre2014.Jan.12335.