Cystinuria [2 genes]

Cystinuria is a disorder inherited in an autosomal dominant/recessive pattern and characterized by reduced reabsorption of cystine, ornithine, lysine, and arginine in the proximal tubule of the kidney. Unlike other involved amino acids, cystine has lower solubility, thereby resulting in a tendency to form calculi.

There are also syndromic forms of cystinuria: 2p21 deletion syndrome and hypotonia-cystinuria syndrome (typical/atypical). As mentioned, disease transmission can be autosomal recessive (phenotype type I or A) or dominant with incomplete penetrance (phenotype non-type I or B).

1-5/10,000

Identifying genetic variants causing cystinuria 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 cystinuria syndrome is suspected, which may include the following clinical characteristics:

  • Kidney lithiasis generally in the first 3 decades of life
  • Colorless, hexagonal crystals in urine

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Cystinuria

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110333

Cystinuria: View panel
  • SLC3A1
  • SLC7A9

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. Castro Pereira DJ, Schoolwerth A, Pais VM. Cystinuria: current concepts and future directions. Clinical Nephrology, Vol. 83 – No. 3/2015 (138-146). PMID: 25685869 DOI: 10.5414/cn108514
  2. Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin Genet. 2012 Jan;81(1):47-55.doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14. PubMed PMID: 21255007.
  3. Giugliani R, Ferrari I, Greene LJ. Heterozygous cystinuria and urinary lithiasis. Am J Med Genet. 1985 Dec;22(4):703-15. PubMed PMID: 3934971.