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ALPHA-1-ANTITRYPSIN DEFICIENCY
Test Code511881
Alias/See Also
"A1-Antitrypsin
A1AT
AAT
Alpha1-Antitrypsin Deficiency, Genotype
Protease Inhibitor (PI)
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A1AT
AAT
Alpha1-Antitrypsin Deficiency, Genotype
Protease Inhibitor (PI)
"
CPT Codes
81332
Preferred Specimen
"Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniot
7 mL whole blood, 10 mL amniot
Minimum Volume
"3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
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Transport Container
"Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit
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Transport Temperature
Refrigerated
Specimen Stability
"Maintain specimen at room temperature or refrigerate
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab
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Methodology
"Multiplex allele-specific polymerase chain reaction (PCR) and gel electrophoresis "
Limitations
"Tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay
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Clinical Significance
"DNA-based determination of the two common alleles underlying a1-antitrypsin deficiency that is associated with chronic obstructive pulmonary disease (COPD) and childhood-onset liver disease. Prenatal testing is available
a1-antitrypsin deficiency (AATD) (OMIM 107400) is a genetic disorder, inherited in a codominant manner. It is associated with COPD (chronic obstructive pulmonary disease), early onset emphysema, unexplained liver disease, panniculitis, cANCA+ vasculitis, and a family history of any of these conditions. The clinical expression can be highly variable. Individuals who smoke and are affected with AATD accumulate lung damage at an accelerated rate over those who do not smoke or have stopped smoking. Two mutations, Z (E342K) and S (E264V), account for >95% of the mutant alleles. In North America, it is estimated that 1 in 12 individuals have either an S or Z allele, and 1 in 477 individuals have some form of deficiency (SS, SZ, ZZ).
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a1-antitrypsin deficiency (AATD) (OMIM 107400) is a genetic disorder, inherited in a codominant manner. It is associated with COPD (chronic obstructive pulmonary disease), early onset emphysema, unexplained liver disease, panniculitis, cANCA+ vasculitis, and a family history of any of these conditions. The clinical expression can be highly variable. Individuals who smoke and are affected with AATD accumulate lung damage at an accelerated rate over those who do not smoke or have stopped smoking. Two mutations, Z (E342K) and S (E264V), account for >95% of the mutant alleles. In North America, it is estimated that 1 in 12 individuals have either an S or Z allele, and 1 in 477 individuals have some form of deficiency (SS, SZ, ZZ).
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