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Advanced Diagnostic Laboratories

Alpha-1-Antitrypsin Levels and Genotype


Test Code

A1LGP

Description

Levels: Alpha-1-Antitrypsin may be decreased in emphysema, hepatic cirrhosis, respiratory distress syndrome of the newborn, nephrosis, malnutrition and cachexia. If a deficiency is present, genotyping may be considered to confirm heterozygous versus homozygous deficiencies.

Genotype: PCR-MALDI TOF Mass spectrometry for identification of alpha-1 antitrypsin variants.
Our genotyping test identifies the presence of 23 single nucleotide polymorphisms (SNPs) in the human SERPINA1 gene, including 22 mutations and the major normal allele (M). SERPINA-1 whole exon sequencing is also available for further analysis.