NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
First-order test in the diagnosis of lecithin-cholesterol acyltransferase deficiency
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
1. Fasting-overnight (12-14 hours)
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
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
The phospholipids comprise about 1/3 of the total lipids in serum. These consist in a large part of a lipid, phosphatidylcholine (formerly lecithin), in which 1 of the glycerol carbons is esterified with choline phosphate. A major step in lipoprotein particle remodeling results from lecithin-cholesterol acyltransferase (LCAT) activity, which normally transesterifies free cholesterol with fatty acids derived from phosphatidylcholine. LCAT deficiency results in a lack of remodeling of primary lipoprotein particles, affecting eventual cholesterol uptake and elimination. In cases of deficiency of LCAT, the concentration of lecithin in the serum are increased several-fold.
Clinical findings in LCAT deficiency include corneal opacities, anemia, and frequently, proteinuria. The disorder is inherited as an autosomal recessive trait. Early atherosclerosis develops in many individuals with this disorder.
In addition, sphingomyelin normally comprises about 5% to 20% of the total phospholipids of serum. In Niemann-Pick Type A and B diseases, sphingomyelin accumulates in visceral and neural tissues and may become increased in the serum.
Other disorders involving alterations of the concentration, composition, and/or lipoprotein distribution include: abeta- or hypobetalipoproteinemia, Tangier disease, or fish eye disease.
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.
Reference values have not been established for patients that are less than 16 years of age.
Elevated in cases of lecithin-cholesterol acyltransferase deficiency deficiency due to elevations of lecithin
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Analyses of disorders mentioned are complex. Specialized additional testing may be required.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Baehorik PS, Levy RI, Rifkind BM: Lipids and dyslipoproteinemia. In Clinical Diagnosis and Management by Laboratory Methods. 18th Edition. Edited by JB Henry. Philadelphia, WB Saunders Company, 1991, p 198
2. Norum KR, Gjone E, Glomset JA: Familial lecithin: cholesterol acyltransferase deficiency, including fish eye disease. In The Metabolic Basis of Inherited Disease. 6th Edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 1989, pp 1181-1194
Method Description Describes how the test is performed and provides a method-specific reference
Direct analysis of serum is performed on a Cobas chemistry analyzer using enzymatic reagents supplied by Wako Chemicals USA, Inc. Choline is liberated from lecithin, sphingomyelin, and lysolecithin by phospholipase D. Choline reacts with choline oxidase to produce hydrogen peroxide that, in turn, reacts with 3,5-dimethoxy-N-ethyl-N-(2-hydroxy-3-sulfopropyl) aniline sodium (DAOS) and 4-aminoantipyrine to produce a blue pigment. The product concentration, measured spectrophotometrically, is proportional to the serum phospholipid concentration. (Takayama M, Itoh S, Nagasaki T, Tanimizu I: A new enzymatic method for determination of serum choline-containing phospholipids. Clin Chim Acta 1977;79:93-98)
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; 7 a.m.-5 p.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.
1 day (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 uses a reagent or kit labeled by the manufacturer as Research Use Only. Its performance characteristics were 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|