Alpha-1-Antitrypsin Genotype, Serum and Whole Blood

Clinical Utility

Testing eligibility
Serum A1AT concentration must be provided to order this test.
Testing is only available if one or more of the following is/are applicable.

• Serum A1AT concentration is ≤ 1.15 g/L.
• There is a documented family history of A1AT deficiency.
• There is liver disease and A1AT concentration is < 1.50 g/L.
• The patient has COPD that is unusually severe and unexplained.

Reflex Test Protocol

1. Targeted Genotyping by melting curve analysis for Z and S variants.
   No further testing is done if the preliminary diagnostic test result agrees with the serum A1AT level.
2. Phenotype by Isoelectric Focussing (IFE) is performed if there is:
   • A discordance between the serum/clinical phenotype and the targeted genotype
   • Targeted genotype is MZ (to allow detection of FZ)
   • When the testing is ordered for prenatal counselling
3. Gene Sequencing will be performed when the clinical information/targeted genotyping/IFE suggest M Malton or another rare allele not detectable by targeted genotyping or IFE.

Additional information is also available here.

Method

Various

Method Description

Genotyping: PCR
Phenotyping: IEF

Result Included

A1AT genotype; Alpha 1 Antitrypsin Phenotype

Aliases/Synonyms

A1AT; Alpha-1 Antitrypsin; AAT; Alpha-1 Protease Inhibitor (PI) Mutation; AAT Deficiency; Alpha-1 Antitrypsin Genotype; AAT Genotype, Mutation

Turnaround Time

28 days

Results

Sample Report

Alpha-1-Antitrypsin Genotype, Serum and Whole Blood (Genotype only)
Alpha-1-Antitrypsin Genotype, Serum and Whole Blood (Genotype and IFE)
Alpha-1-Antitrypsin Genotype, Serum and Whole Blood (Genotype, IFE and Sequencing)

Referral Location

Canada

Last Updated

2023-11-17