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26047 Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum (A1ALC)

Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum (A1ALC)
Test Code: A1ALCSO
Synonyms/Keywords

​a-1-Antitrypsin, Proteotype
A1A Proteotyping
AAT Proteotyping
Alpha 1 Antitrypsin
Alpha-1-Antitrypsin by MS
Anti-Alpha-1-Trypsin
Antitrypsin
Antitrypsin, Proteotyping
Pi Typing (Alpha-1-Antitrypsin Proteotyping)
Protease Inhibitor Allo Typing

Test Components
A1AT Proteotype S/Z, LC-MS/MS
Alpha-1-Antitrypsin, S
If the mass spectrometry proteotype and quantitative serum level are discordant, then phenotyping will be added and performed at an additional charge.
Useful For
Determining the specific proteotype for prognosis and genetic counseling for patients with alpha-1-antitrypsin deficiency
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​Serum ​Red Top Tube (RTT) ​Serum Separator Tube (SST) ​1.25 mL ​0.5 mL
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​ ​ ​Ambient ​28 days
​Refrigerated (preferred) ​28 days
​Frozen ​28 days
Rejection Criteria
Gross lipemia
Interference

This assay will not detect 5% of the known mutations that cause alpha-1-antitrypsin (A1A) deficiency. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of, or affected with, this disease.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Rare mutations exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

Errors in interpretation may occur if patients have had a recent blood transfusion or are on A1A replacement therapy. 

Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday and Thursday; 10 am ​7 days A1ASZ: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
AATP: Nephelometry
A1APR: Isoelectric Focusing
Reference Lab
Reference Range Information
Performing Location Reference Range
​Mayo Medical Laboratories ALPHA-1-ANTITRYPSIN
100-190 mg/dL
 
ALPHA-1-ANTITRYPSIN PROTEOTYPE
Negative for S and Z phenotype (Non S Non Z)
Interpretation
For each of the possible alpha-1-antitrypsin (A1A) genotypes there is an expected range for the total serum level of A1A. However, a number of factors can influence either the A1A serum level or the A1A proteotype results, including acute illness (A1A is an acute-phase reactant), protein replacement therapy, the presence of other rare variants, or the presence of DNA polymorphisms. When the serum level differs from what is expected for that proteotype (ie, discordant), additional studies are performed to ensure the most appropriate interpretation of test results. Additional follow-up may include A1A phenotyping by isoelectric focusing, obtaining additional clinical information, and DNA sequencing.
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82103 ​1
​82542 ​1
​82104 ​1 ​If needed
Synonyms/Keywords

​a-1-Antitrypsin, Proteotype
A1A Proteotyping
AAT Proteotyping
Alpha 1 Antitrypsin
Alpha-1-Antitrypsin by MS
Anti-Alpha-1-Trypsin
Antitrypsin
Antitrypsin, Proteotyping
Pi Typing (Alpha-1-Antitrypsin Proteotyping)
Protease Inhibitor Allo Typing

Test Components
A1AT Proteotype S/Z, LC-MS/MS
Alpha-1-Antitrypsin, S
If the mass spectrometry proteotype and quantitative serum level are discordant, then phenotyping will be added and performed at an additional charge.
Ordering Applications
Ordering Application Description
​COM ​ Alpha 1 Antitrypsin Proteotype S/Z, Serum (A1ALC)
​Centricity ​ Alpha 1 Antitrypsin Proteotype S/Z, Serum (A1ALC)
​Cerner ​ Alpha 1 Antitrypsin Proteotype S/Z, Serum (A1ALC)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​No ​Serum ​Red Top Tube (RTT) ​Serum Separator Tube (SST) ​1.25 mL ​0.5 mL
Specimen Stability Information
Specimen Type Temperature Time
​Serum ​ ​ ​Ambient ​28 days
​Refrigerated (preferred) ​28 days
​Frozen ​28 days
Rejection Criteria
Gross lipemia
Interference

This assay will not detect 5% of the known mutations that cause alpha-1-antitrypsin (A1A) deficiency. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of, or affected with, this disease.

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Rare mutations exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

Errors in interpretation may occur if patients have had a recent blood transfusion or are on A1A replacement therapy. 

Useful For
Determining the specific proteotype for prognosis and genetic counseling for patients with alpha-1-antitrypsin deficiency
Test Components
A1AT Proteotype S/Z, LC-MS/MS
Alpha-1-Antitrypsin, S
If the mass spectrometry proteotype and quantitative serum level are discordant, then phenotyping will be added and performed at an additional charge.
Reference Range Information
Performing Location Reference Range
​Mayo Medical Laboratories ALPHA-1-ANTITRYPSIN
100-190 mg/dL
 
ALPHA-1-ANTITRYPSIN PROTEOTYPE
Negative for S and Z phenotype (Non S Non Z)
Interpretation
For each of the possible alpha-1-antitrypsin (A1A) genotypes there is an expected range for the total serum level of A1A. However, a number of factors can influence either the A1A serum level or the A1A proteotype results, including acute illness (A1A is an acute-phase reactant), protein replacement therapy, the presence of other rare variants, or the presence of DNA polymorphisms. When the serum level differs from what is expected for that proteotype (ie, discordant), additional studies are performed to ensure the most appropriate interpretation of test results. Additional follow-up may include A1A phenotyping by isoelectric focusing, obtaining additional clinical information, and DNA sequencing.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Clinic Laboratories ​Monday and Thursday; 10 am ​7 days A1ASZ: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
AATP: Nephelometry
A1APR: Isoelectric Focusing
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​82103 ​1
​82542 ​1
​82104 ​1 ​If needed
For most current information refer to the Marshfield Laboratory online reference manual.