CYSR - Clinical: Cystinuria Profile, Quantitative, Random, Urine

Test Catalog

Test Name

Test ID: CYSR    
Cystinuria Profile, Quantitative, Random, Urine

Useful For Suggests clinical disorders or settings where the test may be helpful

Biochemical diagnosis and monitoring of cystinuria

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Biochemical diagnosis and monitoring of cystinuria. Measures cystine, lysine, ornithine, and arginine.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Cystinuria is an inborn error of metabolism resulting from poor absorption and reabsorption of the amino acid cystine in the intestine and in the kidney. This leads to an accumulation of poorly soluble cystine in the urine and results in the production of kidney stones (urolithiasis). Symptoms may include acute episodes of abdominal or lower back pain, presence of blood in the urine (hematuria), and recurrent episodes of kidney stones may result in frequent urinary tract infections, which may ultimately result in renal insufficiency. The combined incidence of cystinuria has been estimated to be 1 in 7,000.


Cystinuria can be classified into 3 subtypes based on the excretion of amino acids in the urine of heterozygotes (parents or children of affected individuals). Heterozygotes of type I excrete normal amounts of cystine, while those with types II and III present with slight-to-moderate excretion of cystine and other amino acids (lysine, arginine, and ornithine). All 3 subtypes are caused by mutations in only 2 genes, SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. A new classification system has been proposed to distinguish the various forms of cystinuria: type A, due to mutations in the SLC3A1 gene; type B, due to mutations in the SLC7A9 gene; and type AB, due to 1 mutation in each SLC3A1 and SLC7A9.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Urine Amino Acid Reference Values (nmol/mg creatinine)

Age Groups

 < or =12 Months

13-35 Months

3-6 Years

7-8 Years

9-17 Years

> or =18 Years








































Interpretation Provides information to assist in interpretation of the test results

Homozygotes or compound heterozygotes with cystinuria excrete large amounts of cystine in urine, but the amount varies markedly. Urinary excretion of other dibasic amino acids (arginine, lysine, and ornithine) is also typically elevated. Plasma concentrations are generally normal or slightly decreased.


Individuals who are homozygous and heterozygous for non-type I cystinuria can be distinguished by the pattern of urinary amino acids excretion: homozygous individuals secrete large amounts of cystine and all 3 dibasic amino acids, whereas heterozygous individuals secrete more lysine and cystine than arginine and ornithine.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Saravakos P, Kokkinou V, Giannatos E: Cystinuria. Current Diagnosis and Management. Urology April 2014;4(83):693-699

2. Palacin, M, Goodyer, P, Nunes V, Gasparini P: Cystinuria. Edited by D Valle, AL Beaudet, B Vogelstein, et al: New York, NY: McGraw-Hill; 2014. Accessed 6 July 2016. Available at

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test