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


Abbrev Code:A1AGEN   
Order Code:LAB4375Order 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 Codes: 81332 x1, 82103 x1
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:

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes. Counseling and informed consent are recommended for genetic 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)
Container:Purple (EDTA), Red or gold (gel)
Collection Instructions:Must collect purple (EDTA) AND red/black or gold (gel) tubes.
Causes for Rejection:Hemolyzed specimens. Frozen specimens in glass collection tubes.


Processing and Shipping

Specimen Processing:Do not centrifuge purple (EDTA) tube. 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.
Stability:Serum: 1 week at room temperature; 3 months refrigerated or frozen.
Whole blood (EDTA): 72 hours at room temperature; 1 week refrigerated; 1 month frozen
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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