Alpha-1-Antitrypsin and Alpha-1-Antitrypsin Genotype with Reflex to Alpha-1-Antitrypsin Phenotype


Sunquest Code:A1AGEN  
Epic Code:LAB4375Epic Name:Alpha 1 Antitryp reflex to pheno
Order Instructions:Test includes Alpha-1-Antitrypsin. Do not order AAT performed in PROT.
Synonyms:Serpinal Enzyme Concentration; Alpha 1 Antitrypsin
Methodology:Immunoturbidimetric/polymerase chain reaction/Fluorescent resonance energy transfer/Isoelectric focusing
CPT Code:81332, 82103
Test Includes:Alpha-1-Antitrypsin Enzyme Concentration and 2 mutations with reflex to phenotyping.
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat; results are reported in 2-10 days.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Compliance:

The performance characteristics of this test were validated by ARUP Laboratories, Inc. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:3 mL in purple (EDTA) tube AND 1.2 mL in red/black or gold (gel)
Minimum\Peds Volume:0.5 mL in purple (EDTA) AND 1.2 mL in red/black or gold (gel)
Collection Instructions:

Must collect purple (EDTA) tube AND red/black or gold (gel) tube.

 

Causes for Rejection:Hemolyzed specimens.


Processing and Shipping

Specimen Processing:Allow serum specimen to clot completely at room temperature. Separate serum from cells ASAP. Aliquot 0.5 mL serum AND 3 mL whole blood (EDTA) 0.5 mL minimum. Store at refrigerated temperature.
Shipping Instructions:Ship both specimens at refrigerated temperature.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:51256


Interpretive

Reference Range:

Alpha-1-Antitrypsin

90-200 mg/dL

Alpha-1-Antitrypsin S/Z Mutations

By report

Alpha-1-Antitrypsin Phenotype

By report

 

 

Use:Genotyping performed by PCR followed by fluorescent probe melting analysis; AAT protein concentration measured using immunoturbidmetric assay; phenotyping performed by isoelectric focusing. Genotyping and AAT serum protein concentration determination are performed on all specimens. Protein phenotyping is performed on specimens that have AAT serum concentrations of less than 100 mg/dL and are heterozygous for either the S or Z allele by genotyping. In addition, protein phenotyping is performed on specimens that have serum protein concentrations of less than 100 mg/dL and do not contain either S or Z alleles by genotyping. Isoelectric focusing is not performed on specimens that are homozygous for deficiency alleles (ZZ, SZ, SS) genotyping.


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