NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
An aid in the screening and monitoring of Hartnup disease
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Plastic, 10-mL urine tube (Supply T068)
Specimen Volume: 2 mL
Collection Instructions: Collect a random urine specimen.
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Urine||Frozen (preferred)||7 days|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Amino acids are the basic units that make up proteins and are crucial to virtually all metabolic processes in the body. Tryptophan is an essential amino acid necessary for the synthesis of serotonin, melatonin, and niacin.
Hartnup disease is a rare, usually benign, autosomal recessive disorder of renal and intestinal neutral amino acid transport. The clinical features associated with Hartnup disease include an erythematous skin rash on exposed surfaces that is identical to the rash seen in pellagra (niacin deficiency) and cerebral ataxia. Biochemically, it is characterized by increased renal excretion of tryptophan and other neutral amino acids. Newborn screening studies reveal that most affected individuals remain asymptomatic, suggesting that clinical expression of symptoms is dependent on additional genetic or environmental factors (ie, multifactorial disease).
Determination of tryptophan by conventional amino acid profiling methods (ninhydrin-based, HPLC) is hampered by co-elution with other compounds. This liquid chromatography-tandem mass spectrometry method quantifies tryptophan and is interference free.
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.
< or =35 months: 14-315 nmol/mg creatinine
3-8 years: 10-303 nmol/mg creatinine
9-17 years: 15-229 nmol/mg creatinine
> or =18 years: 18-114 nmol/mg creatinine
Increased urinary excretion of tryptophan is suggestive of Hartnup disease.
If the result is within the respective age-matched reference range, no interpretation is provided. When an abnormal result is reported, an interpretation may be added, including a correlation to available clinical information and recommendations for additional biochemical testing, if applicable.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Abnormal urine concentrations of tryptophan are not diagnostic for any particular disorder and must be interpreted in the context of a patient's clinical presentation.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Roth KS: Disorders of membrane transport. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. New York, McGraw-Hill Medical Division, 2009, pp 108-112
2. Bremer HJ, Duran M, Kamerling JP, et al: Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Edited by Urban and Schwarzenberg. Baltimore-Munich, 1981, pp 171-173
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 (LC-MS/MS) by labeling amino acids present in plasma, cerebrospinal fluid, and 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 (API 3200). 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 (150 x 4.6 mm) column and total analysis time is 18 minutes.(Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 8 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
3 days (not reported on Saturday or Sunday)
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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 The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) 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 U.S. 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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|