- Patient Preparation
- Serum separator tube AND lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Allow serum to clot completely at room temperature. Separate serum from cells ASAP or within 2 hours of collection. Transport 0.5 mL serum AND 3 mL whole blood. (Min: 0.5 mL serum AND 0.5 mL whole blood)
- Storage/Transport Temperature
- Unacceptable Conditions
- Serum: Ambient: 8 hours; Refrigerated: 5 days; Frozen: 2 weeks
Whole Blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
|Test Number||Components||Reference Interval|
|Alpha-1-Antitrypsin Phenotype||By report|
Characteristics: Coughing, wheezing, chronic obstructive pulmonary disease, emphysema, cirrhosis.
Incidence: 1 in 3000 to 1 in 5000.
Inheritance: Autosomal recessive.
Cause: Mutations in the AAT glycoprotein gene on chromosome 14q31-32.3; homozygosity for the Z allele is the most common cause.
Clinical Sensitivity: 95 percent.
Mutations Tested: S allele (c.791A>T) and Z allele (c.1024G>A).
Methods: 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, or SS) by genotyping.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Mutations other than those targeted in S allele (c.791A>T) and Z allele (c.1024G>A) will not be detected. Diagnostic errors can occur due to rare sequence variations.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
See Compliance Statement C: www.aruplab.com/CS
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name|
|0051259||Alpha-1-Antitrypsin S Allele|
|0051260||Alpha-1-Antitrypsin Z Allele|
|0051261||Alpha-1-Antitrypsin SZ Interpretation|
|2001289||Alpha-1-Antitrypsin SZ Specimen|
- Alpha 1 Antitrypsin
- Alpha 1 Antitrypsin Genotype
- Alpha one Antitrypsin
- Alpha1-Proteinase Inhibitor
- Pi Typing
- Protease I