Narcolepsy-Associated Antigen, HLA-DQB1 Typing, Blood
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Ruling out a diagnosis of narcolepsy
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
Polymerase Chain Reaction (PCR)/Sequence-Specific Oligonucleotide Probes (SSO)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Narcolepsy Associated Ag, B
Specimen Type Describes the specimen type needed for testing
Whole Blood ACD-B
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: Yellow top (ACD solution B)
Specimen Volume: 6 mL
Collection Instructions: Do not transfer blood to other containers.
Forms: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
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.
|Whole Blood ACD-B||Refrigerated (preferred)|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Narcolepsy is a neurological condition affecting about 0.02% to 0.16% of African American, Caucasian, and Japanese individuals. It can be quite disabling because it is characterized by abnormal rapid eye movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis.
Studies have identified DQB1*06:02 as a useful marker of narcolepsy. While DQB1*06:02 is found in virtually all African American, Caucasian, and Japanese narcoleptics, it must be clearly understood that some patients do not have this allele and, more importantly, about 25% of normal people have this gene.
Because DQB1*06:02 is present in the normal population, no test for an HLA gene constitutes a test for narcolepsy. A more reliable approach would be to consider that, in an appropriate patient, the absence of the strongly associated DQB1*06:02, provides good evidence that the patient does not have narcolepsy.
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.
An interpretive report will be provided.
If DQB1*06:02 is not detected, the narcolepsy-associated antigen test result will be reported as negative for DQB1*06:02.
If the allele is detected, the result will be reported as positive for DQB1*06:02.
Cautions 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 Provides recommendations for further in-depth reading of a clinical nature
1. Mignot E, Lin X, Arrigoni J, et al: DQB1*0602 and DQB1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and Black Americans. Sleep 1994;17:S60-67
2. Chabas D, Taheri S, Renier C, Mignot E: The genetics of narcolepsy. Ann Rev Genomics Hum Genet 2003;4:459-483
Method Description Describes how the test is performed and provides a method-specific reference
This assay applies Luminex technology to the reverse sequence specific oligonucleotide DNA typing method. First, target DNA is PCR-amplified using a group-specific primer. The PCR product is biotinylated, which allows it to be detected using r-phycoerythrin-conjugated streptavidin. The PCR product is denatured and allowed to rehybridize to complementary DNA probes conjugated to fluorescently coded microspheres. A flow analyzer identifies the fluorescent intensity of phycoerythrin on each microsphere. The HLA class II allele or allele groups of the sample are determined by the positive and negative bead identified using a computer software program. The assignment of the HLA typing is based on the reaction pattern compared to patterns associated with published HLA gene sequences.(Package insert: One Lambda, LABType SSO Typing Tests, rev 18, 2010)
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; 7:30 a.m.-5:00 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.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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.
81376-HLA Class II typing, low resolution (eg, antigen equivalents); one locus (eg, HLA-DRB1/3/4/5, -DQB1, -DQA1, -DPB1, or -DPA1), each
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|
|NARC_||Narcolepsy Associated Ag Result||53938-7|