Test Id : CYSQN
Cystinuria Profile, Quantitative, 24 Hour, Urine
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of cystinuria using 24-hour urine collections
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides a biochemical diagnosis of cystinuria through the measurement of cystine, lysine, ornithine, and arginine.
Method Name
A short description of the method used to perform the test
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Amino Acid
Cystinuria
Cystine, Quantitative, Urine
Specimen Type
Describes the specimen type validated for testing
Urine
Necessary 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.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| TM38 | Collection Duration | |
| VL36 | Urine Volume |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
-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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Urine Preservative Collection Options
Note: The addition of preservative must occur prior to beginning the collection. If preservative is not available, refrigerate during and after collection.
| Ambient (no additive) | No |
| Refrigerate (no additive) | OK |
| Frozen (no additive) | OK |
| 50% Acetic Acid | No |
| Boric Acid | No |
| Diazolidinyl Urea | Preferred |
| 6M Hydrochloric Acid | No |
| 6M Nitric Acid | No |
| Sodium Carbonate | No |
| Thymol | No |
| Toluene | OK |
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 70 days | |
| Refrigerated | 14 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of cystinuria using 24-hour urine collections
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides a biochemical diagnosis of cystinuria through the measurement of 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 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.
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.
Cystine
3-15 years: < or =53 mcmol/24 h
> or =16 years: < or =115 mcmol/24 h
Lysine
3-15 years: < or =140 mcmol/24 h
> or =16 years: < or =290 mcmol/24 h
Ornithine
3-15 years: < or =16 mcmol/24 h
> or =16 years: < or =70 mcmol/24 h
Arginine
3-15 years: < or =25 mcmol/24 h
> or =16 years: < or =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
Interpretation
Provides information to assist in interpretation of the test results
Individuals who are homozygous or compound heterozygous for 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.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
No significant cautionary statements
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Servais A, Thomas K, Strologo LD, et al. Cystinuria: clinical practice recommendation. Kidney Int. 2021;99(1):48-58
2. Palacin M, Goodyer P, Nunes V, Gasparini P. Cystinuria. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed October 24, 2024. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225555540
Method Description
Describes how the test is performed and provides a method-specific reference
Quantitative analysis of amino acids is performed by liquid chromatography tandem mass spectrometry. Patient samples are combined with isotopically labeled internal standard. Following protein precipitation, the supernatant is subjected to hydrophilic-interaction liquid chromatography for the separation of isomers with MS/MS detection of the underivatized amino acids.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82136
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| CYSQN | Cystinuria Profile, QN, 24 hour | 90785-7 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| TM38 | Collection Duration | 13362-9 |
| VL36 | Urine Volume | 3167-4 |
| 3583 | Cystine | 13966-7 |
| 3589 | Lysine | 25464-9 |
| 3590 | Ornithine | 25491-2 |
| 3591 | Arginine | 25322-9 |
| 50447 | Reviewed By | 18771-6 |