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|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Test Id : CYSQN
Cystinuria Profile, Quantitative, 24 Hour, Urine
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of cystinuria
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Biochemical diagnosis of cystinuria. Measures cystine, lysine, ornithine, and arginine.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Name
A short description of the method used to perform the test
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.
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Lists a shorter or abbreviated version of the Published Name for a test
Cystinuria Profile, QN, 24 hour
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
Amino Acid
Cystine, Quantitative, Urine (order when client indicates 24 hr TV)
Cystinuria
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Urine
Necessary Information
24-Hour volume is required.
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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Urine Tubes, 10 mL (T068)
Specimen Volume: 5 mL
Collection Instructions:
1. Collect before intravenous pyelogram.
2. Collect urine for 24 hours.
3. Add 20 mL of toluene as preservative at start of collection. If toluene is not available, refrigerate during collection.
4. Mix well before taking 5-mL aliquot.
Additional Information: See Urine Preservatives-Collection and Transportation for 24-Hour Urine Specimens in Special Instructions for multiple collections.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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 or application of temperature controls must occur within 4 hours of completion of the collection.
| | No |
| Refrigerate | OK |
| Frozen | OK |
| 50% Acetic Acid | No |
| Boric Acid | No |
| Diazolidinyl Urea | No |
| 6M Hydrochloric Acid | No |
| 6M Nitric Acid | No |
| Sodium Carbonate | No |
| Thymol | No |
| Toluene | Preferred |
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Identifies specimen types and conditions that may cause the specimen to be rejected
| All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
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
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of cystinuria
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Biochemical diagnosis of cystinuria. Measures cystine, lysine, ornithine, and arginine.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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, 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 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 chromosome 2p and SLC7A9 on chromosome 19q. Initially, the disease was classified into subtypes I, II, and III (type II and III are also referred as nontype-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.
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: 11-53 mcmol/24 hours
> or =16 years: 28-115 mcmol/24 hours
LYSINE
3-15 years: 19-140 mcmol/24 hours
> or =16 years: 32-290 mcmol/24 hours
ORNITHINE
3-15 years: 3-16 mcmol/24 hours
> or =16 years: 5-70 mcmol/24 hours
ARGININE
3-15 years: 10-25 mcmol/24 hours
> or =16 years: 13-64 mcmol/24 hours
Conversion Formulas:
Result in mcmol/24 hours x 0.24=result in mg/24 hours
Result in mg/24 hours x 4.17=result in mcmol/24 hours
Interpretation
Provides information to assist in interpretation of the test results
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 nontype 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
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
Recommendations for in-depth reading of a clinical nature
1. Saravakos P, Kokkinou V, Giannatos E: Cystinuria: current diagnosis and management. Urology. 2014 Apr;83(4):693-699
2. Palacin, M, Goodyer, P, Nunes V, Gasparini P: Cystinuria. 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 April 27, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225555540&bookid=2709
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Description
Describes how the test is performed and provides a method-specific reference
Describes how the test is performed and provides a method-specific reference
Quantitative analysis of the amino acids (AA) cystine, lysine, arginine, and ornithine is performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) by labeling amino acids present in urine with aTRAQ Reagent 121. Samples are dried and reconstituted with aTRAQ Reagent 113-labeled Standard Mix. Amino acids are separated and detected by LC-MS/MS. The concentrations of amino acids are established by comparison of their ion intensity (121-labeled amino acids) to that of their respective internal standards (113-labeled amino acids). Chromatography is performed using a C18 (150x4.6mm) column and total analysis time is 18 minutes.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Indicates whether the report includes an additional document with charts, images or other enriched information
No
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.
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.
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.
3 to 5 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
2 weeks
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Indicates the location of the laboratory that performs the test
Rochester
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.
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 Regional Manager. 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.
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. This test 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.
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.
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 |
Test Setup Resources
Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.