Test Catalog

Test Id : A1APP

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Alpha-1-Antitrypsin Phenotype, Serum

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency

Profile Information
A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test Id Reporting Name Available Separately Always Performed
A1AP2 Alpha-1-Antitrypsin Phenotype No Yes
AATP Alpha-1-Antitrypsin, S Yes, (Order AAT) Yes

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Method Name
A short description of the method used to perform the test

A1AP2: Isoelectric Focusing

AATP: Nephelometry

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Alpha-1-Antitrypsin Phenotype

Aliases
Lists additional common names for a test, as an aid in searching

A1A Phenotyping

a-1-Antitrypsin, Phenotype

AAT Phenotyping

Alpha 1 Antitrypsin

Anti-Alpha-1-Trypsin

Antitrypsin

Antitrypsin, Phenotype

Pi Typing (Alpha-1-Antitrypsin Phenotyping)

Protease Inhibitor Allo Typing

Alpha-1-Antitrypsin Reflex

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Serum

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 1.25 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

If not ordering electronically, complete, print, and send 1 of the following with the specimen:

-Gastroenterology and Hepatology Test Request (T728)

-General Request (T239)

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.

0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

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
Serum Refrigerated (preferred) 28 days
Ambient 28 days
Frozen 28 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Alpha-1-antitrypsin (A1A) is the most abundant serum protease inhibitor and inhibits trypsin and elastin, as well as several other proteases. The release of proteolytic enzymes from plasma onto organ surfaces and into tissue spaces results in tissue damage unless inhibitors are present. Congenital deficiency of A1A is associated with the development of emphysema at an unusually early age and with an increased incidence of neonatal hepatitis, usually progressing to cirrhosis.

 

Most normal individuals have the M phenotype (M, M1, or M2). Over 99% of M phenotypes are genetically MM. In the absence of family studies, the phenotype (M) and quantitative level can be used to infer the genotype (MM). The most common alleles associated with a quantitative deficiency are Z and S.

 

See Alpha-1-Antitrypsin-A Comprehensive Testing Algorithm in Special Instructions.

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.

ALPHA-1-ANTITRYPSIN

100-190 mg/dL

 

ALPHA-1-ANTITRYPSIN PHENOTYPE

The interpretive report will identify the alleles present. For rare alleles, the report will indicate whether or not they have been associated with reduced quantitative levels of alpha-1-antitrypsin.

Interpretation
Provides information to assist in interpretation of the test results

There are greater than 40 alpha-1-antitrypsin (A1A) phenotypes (most of these are associated with normal quantitative levels of protein). The most common normal phenotype is M (M, M1, or M2), and greater than 90% of individuals of European descent are genetically homozygous M (MM).

 

A1A deficiency is usually associated with the Z phenotype (homozygous ZZ), but SS and SZ are also associated with decreased A1A levels.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay identifies the phenotype of the circulating alpha-1-antitrypsin (A1A) protein. If the patient is already on replacement therapy, the phenotype will detect patient and replacement protein.

                         

If 2 bands are seen, such as an M band and a Z bands, it is reported as MZ (eg, heterozygous)

 

If 1 band is seen, such as the Z band and the quantitative level is consistent with a homozygote, the phenotype is assumed to be homozygous and is reported as ZZ.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Morse JO: Alpha-1-antitrypsin deficiency. N Engl J Med 1978;299:1045-1048;1099-1105

2. Donato LJ, Jenkins SM, Smith C, et al: Reference and interpretive ranges for alpha(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. Am J Clin Pathol 2012 Sep;138(3):398-405 

Method Description
Describes how the test is performed and provides a method-specific reference

Phenotyping is done by isoelectric focusing in agarose gels.(Package insert: Hydragel 18 A1AT Isofocusing. Sebia. 2013 July)

 

Nephelometry.(Instruction manual: Siemens Nephelometer II. Siemens, Inc., Newark, DE)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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 through 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.

2 to 6 days

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

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 has been cleared, approved, or is exempt by the US 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 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.

82103

82104

 

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
A1APP Alpha-1-Antitrypsin Phenotype 32769-2
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.
AATP Alpha-1-Antitrypsin, S 6771-0
8166 Alpha-1-Antitrypsin Phenotype 32769-2

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports