Test Id : C5OHU
C5-OH Acylcarnitine, Quantitative, Random, Urine
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) in plasma or newborn screening blood spots is due to one of several biochemical genetic diagnoses: 3-methylcrotonylglycinuria, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-methylglutaconic aciduria, biotinidase deficiency or holocarboxylase deficiency.
Urine C5OH is useful in differentiating patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.
Highlights
Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH in plasma or newborn screening blood spots is due to one of several biochemical genetic diagnoses: 3-methylcrotonylglycinuria, 3-hydroxy 3-methylglutaryl-(HMG)-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-methylglutaconic aciduria, biotinidase deficiency or holocarboxylase deficiency.
Urine C5OH is useful in differentiating patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.
Method Name
A short description of the method used to perform the test
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-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
3-Methylcrotonylglycinuria
3MCC
Biotinidase
BKT
HCS
Hydroxymethylglutaryl-CoA (HMG-CoA) Lyase Deficiency
MCC
MHBD
Multiple Carboxylase Deficiency
3-Hydroxy Isovalerylcarnitine
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic Aciduria Type I
3-Methylglutaconyl-CoA Hydratase Deficiency
Acylcarnitines, Urine
Beta-Ketothiolase
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
HCS Deficiency
HMG-CoA (Hydroxymethylglutaryl-CoA) Lyase Deficiency
Holocarboxylase Deficiency
Holocarboxylase Synthetase Deficiency
Specimen Type
Describes the specimen type validated for testing
Urine
Ordering Guidance
This second-tier test is used specifically to evaluate a newborn screening elevation of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine and must not be ordered with either C4U / C4 Acylcarnitine, Quantitative, Random, Urine or C5DCU / C5-DC Acylcarnitine, Quantitative, Random, Urine.
For general screening for metabolic disorders, see OAU / Organic Acids Screen, Random, Urine; ACRN / Acylcarnitines, Quantitative, Plasma; and AAQP / Amino Acids, Quantitative, Plasma.
Necessary Information
Include patient's age, family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: If clinically feasible, discontinue L-carnitine supplementation at least 72 hours before specimen collection.
Supplies: Urine Tubes, 10 mL (T068)
Collection Container/Tube: Clean, plastic urine collection container
Submission Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 5 mL
Collection Instructions:
1. Collect a random urine specimen.
2. Freeze specimen immediately.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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) | 7 days | |
| Refrigerated | 24 hours |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Elevated 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) in plasma or newborn screening blood spots is due to one of several biochemical genetic diagnoses: 3-methylcrotonylglycinuria, 3-hydroxy 3-methylglutaryl-CoA lyase deficiency, beta-ketothiolase deficiency, 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency, 3-methylglutaconic aciduria, biotinidase deficiency or holocarboxylase deficiency.
Urine C5OH is useful in differentiating patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The differential diagnosis of an isolated elevation of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine (C5-OH) in plasma or (newborn screening) blood spots includes the following disorders:
-3-Methylcrotonyl-CoA carboxylase deficiency (common name: 3-methylcrotonylglycinuria), either infantile or maternal
-3-Hydroxy 3-methylglutaryl-CoA lyase deficiency
-Beta-ketothiolase deficiency
-2-Methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency
-3-Methylglutaconic aciduria type I
-Biotinidase deficiency
-Holocarboxylase deficiency
Confirmatory and diagnostic testing are necessary to differentiate these clinical entities. This test can be used to differentiate patients with 3-methylcrotonylglycinuria and with 3-methylglutaconic aciduria as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses.
The American College of Medical Genetics and Genomics Newborn Screening Work Group published diagnostic algorithms for the follow-up of infants who had positive newborn screening results. For more information, see the Practice Resources: ACT Sheets and Algorithms at www.acmg.net.
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.
<2.93 millimoles/mole creatinine
Interpretation
Provides information to assist in interpretation of the test results
Preliminary data showed that an elevated excretion in urine and concentration in plasma of 3-hydroxyisovaleryl-/2-methyl-3-hydroxy acylcarnitine can be the only biochemical abnormalities in patients with 3-methylcrotonylglycinuria.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
The results of urine acylcarnitines are typically not informative when the patient is receiving L-carnitine supplements.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Wolfe LA, Finegold DN, Vockley J, et al. Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine. Pediatrics. 2007;120(5):e1335-1340
2. Miller MJ, Cusmano-Ozog K, Oglesbee D, Young S; ACMG Laboratory Quality Assurance Committee: Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(2):249-258
Method Description
Describes how the test is performed and provides a method-specific reference
Acylcarnitines, including 3-hydroxy isovalerylcarnitine, are determined in urine by flow injection analysis tandem mass spectrometry using acetyl-d3-carnitine, propionyl-d3-carnitine, butyryl-d3-carnitine, octanoyl-d3-carnitine, dodecanoyl-d3-carnitine, and palmitoyl-d3-carnitine as internal standards. The supernatant is evaporated and the residue treated with n-butanolic hydrochloric acid yielding the acylcarnitines for analysis as their n-butyl esters.(Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005;84(2):137-143)
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, Wednesday, 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.
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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.
82017
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 |
|---|---|---|
| C5OHU | C5-OH Acylcarnitine, QN, U | 50091-8 |
| 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.
|
|---|---|---|
| 88830 | C5-OH Acylcarnitine, QN, U | 50091-8 |
| 28125 | C5-OH Interpretation | 59462-2 |
| 34469 | Reviewed By | 18771-6 |