- 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: 1 week; Refrigerated: 3 months; Frozen: 3 months (avoid repeat freeze/thaw cycles)
Whole Blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
|Test Number||Components||Reference Interval|
|0050001||Alpha-1-Antitrypsin||Effective November 17, 2014|
|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 only performed on specimens that have AAT protein concentrations of less than 90 mg/dL and are not homozygous or compound heterozygous for the S or Z deficiency alleles by genotyping..
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Mutations, other than the S (c.791A>T) and Z (c.1024G>A) alleles, 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
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||LOINC|
|0051259||Alpha-1-Antitrypsin S Allele||1829-1|
|0051260||Alpha-1-Antitrypsin Z Allele||1831-7|
|0051261||Alpha-1-Antitrypsin SZ Interpretation||1830-9|
|2001289||Alpha-1-Antitrypsin SZ Specimen||31208-2|
- Alpha 1 Antitrypsin
- Alpha 1 Antitrypsin Genotype
- Alpha one Antitrypsin
- Alpha1-Proteinase Inhibitor
- Pi Typing
- Protease I