NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Investigation of patients with possible Wilson disease
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
See Wilson Disease Testing Algorithm in Special Instructions.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
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.
Preferred: Red top
Acceptable: Serum gel
Submission Container/Tube: Plastic vial
Specimen Volume: 1 mL
Collection Instructions: Fasting (4 hours preferred, nonfasting acceptable).
Forms: If not ordering electronically, submit a General Request Form (Supply T239) with the specimen.
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.
Mild OK; Gross reject
Mild OK; Gross reject
Mild OK; Gross reject
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Serum||Refrigerated (preferred)||7 days|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Ceruloplasmin is an acute phase protein and a transport protein. This blue-colored glycoprotein belongs to the alpha 2-globulin electrophoretic fraction and contains 8 copper atoms per molecule.
Incorporation of copper into the structure occurs during the synthesis of ceruloplasmin in the hepatocytes. After secretion from the liver, ceruloplasmin migrates to copper-requiring tissue where the copper is liberated during catabolism of the ceruloplasmin molecule. In addition to transporting copper, ceruloplasmin has a catalytic function in the oxidation of iron (Fe[2+] to Fe[3+]), polyamines, catecholamines, and polyphenols.
Decreased concentrations occur during recessive autosomal hepatolenticular degeneration (Wilson disease). On a pathochemical level, the disease, which is accompanied by reduced ceruloplasmin synthesis, occurs as a consequence of missing Cu(2+) incorporation into the molecule due to defective metallothionein. This results in pathological deposits of copper in the liver (with accompanying development of cirrhosis), brain (with neurological symptoms), cornea (Kayser-Fleischer ring), and kidneys (hematuria, proteinuria, aminoaciduria). In homozygous carriers, ceruloplasmin levels are severely depressed. Heterozygous carriers exhibit either no decrease at all or just a mild decrease.
The rare Menkes syndrome is a genetically caused copper absorption disorder with concomitant lowering of the ceruloplasmin level. Protein loss syndromes and liver cell failures are the most important causes of acquired ceruloplasmin depressions.
As ceruloplasmin is a sensitive acute phase reactant, increases occur during acute and chronic inflammatory processes. Great increases can lead to a green-blue coloration of the sera.
See Wilson Disease Testing Algorithm in Special Instructions. Refer to The Diagnosis of Wilson Disease Mayo Medical Laboratories Communique 2005 Feb;30(2) for more information regarding diagnostic strategy.
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.
0-17 years: 14.0-41.0 mg/dL
> or =18 years: 15.0-30.0 mg/dL
0-17 years: 14.0-41.0 mg/dL
> or =18 years: 16.0-45.0 mg/dL
Values <14 mg/dL are expected in Wilson disease.
Values vary considerably from patient to patient and may be in the normal range in some patients with Wilson disease (indicating a different primary defect).
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Ceruloplasmin levels are affected by infections (ceruloplasmin is a late acute phase reactant) and liver function.
Birth control pills and pregnancy increase ceruloplasmin levels.
Ceruloplasmin levels are not always extremely low in patients with Wilson disease.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Cox DW, Tumer Z, Roberts EA: Copper transport disorders: Wilson’s disease and Menkes disease. In Inborn Metabolic Disease. Edited by J Fernandes, JM Sandubray, F VandenBerghe. Berlin, Heidelberg, New York, Springer-Verlag, 2000, pp 385-391
Method Description Describes how the test is performed and provides a method-specific reference
Immunoturbidimetric assay performed on the Roche Diagnostic Cobas. Anti-ceruloplasmin antibodies react with antigen in the sample to form antigen/antibody complexes which, following agglutination can be determined turbidimetrically.(Package insert: Ceruloplasmin Tina-quant, Roche Diagnostics, Indianapolis, IN, 20764663322, 2006-10 v3)
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 Saturday; Continuously
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.
1 day (not reported on 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 has been cleared or approved by the U.S. Food and Drug Administration and is used per manufacturer's instructions. Performance characteristics were verified by Mayo Clinic in a manner consistent with CLIA requirements.
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|