Alpha-1-Antitrypsin Deficiency Profile
Method Description Describes how the test is performed and provides a method-specific reference
A PCR-based assay is used to detect the Z and S allele within the alpha-1-antitrypsin (A1A) SERPINA1 gene. Other A1A variants will not be detected by this assay. A1A serum levels are measured by immunonephelometry. The serum level will be reported with the genotyping result. Any genotyping results that are discordant with the serum level will be phenotyped by isoelectric focusing.(Pierce JA: Hereditary pulmonary emphysema. In Emery and Rimoin's Principles and Practices of Medical Genetics. Vol 2. Third edition. Edited by DL Rimoin, JM Connor, RE Pyeritz. New York, Churchill Livingstone, 1997, pp 2727-2750; instruction manual: Behring Nephelometer II. Dade Behring, Inc., Newark, DE)
Supplemental Report Indicates whether the report includes an additional document with charts, images or other enriched information
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, Wednesday; 2 pm
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
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
See Individual Unit Codes
Performing Laboratory Location The location of the laboratory that performs the test