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HelpTest Code CYSQN Cystinuria Profile, Quantitative, 24 Hour, Urine
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
UrineNecessary Information
1. 24-Hour volume (in milliliters) is required.
2. Patient's age is required.
3. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Required
-Urine Tubes, 10 mL (T068)
-Diazolidinyl Urea (Germall) 5.0 mL (T822)
Specimen Volume: 5 mL
Collection Instructions:
1. Collect before intravenous pyelogram.
2. Add 5 g of diazolidinyl urea (Germall) as preservative at start of collection. If preservative is not available, refrigerate during collection.
3. Collect urine for 24 hours.
4. Mix well before taking 5-mL aliquot.
Additional Information: See Urine Preservatives-Collection and Transportation for 24-Hour Urine Specimens for multiple collections.
Specimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Urine | Frozen (preferred) | 70 days |
| Refrigerated | 14 days |
Reference Values
Cystine
3-15 years: ≤53 mcmol/24 h
≥16 years: ≤115 mcmol/24 h
Lysine
3-15 years: ≤140 mcmol/24 h
≥16 years: ≤290 mcmol/24 h
Ornithine
3-15 years: ≤16 mcmol/24 h
≥16 years: ≤70 mcmol/24 h
Arginine
3-15 years: ≤25 mcmol/24 h
≥16 years: ≤64 mcmol/24 h
Conversion Formulas:
Result in mcmol/24 hours x 0.24 =result in mg/24 h
Result in mg/24 hours x 4.17 =result in mcmol/24 h
Day(s) Performed
Monday through Friday
CPT Code Information
82136
Clinical Information
Cystinuria is an inborn error of metabolism resulting from poor absorption and reabsorption of the amino acid cystine in the intestines and kidneys. 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 and the presence of blood in the urine (hematuria). 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 7000.
Cystinuria is an autosomal recessive disease, but some heterozygous carriers have an autosomal dominant, incomplete penetrance appearance with elevated, but typically nondisease-causing, urinary cystine excretion. Cystinuria is caused by variants in genes, SLC3A1 on the short arm of chromosome 2 and SLC7A9 on the long arm of chromosome 19. Initially, the disease was classified into subtypes I, II, and III (type II and III are also referred as non-type I) based on the amount of urinary cystine excreted in heterozygous parental specimens. A new classification system has been proposed to distinguish the various forms of cystinuria: type A, due to variants in the SLC3A1 gene; type B, due to variants in the SLC7A9 gene; and type AB, due to 1 variant in each SLC3A1 and SLC7A9 gene.
Report Available
3 to 5 daysReject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.