Alpha-1-antitrypsin deficiency (A1ATD; MIM 613490) is an autosomal recessive disorder caused by mutations in the SERPINA1 gene. This gene encodes alpha-1-antitrypsin, an inhibitor of serine proteases. Its primary target is elastase and its main function is to protect the lower respiratory tract against proteolytic destruction by human leukocyte elastase. Patients with A1ATD develop emphysema with an age of onset around 35 years for smokers and 45 for more

Tests Available

By gene: SERPINA1
Sanger Sequencing
Test Code: 2397
Deletion / Duplication
Test Code: 2398
Sanger/Del Dup Comprehensive
Test Code: 2399

Test Details

Technical Information
Disease Groups: 
Lung Diseases
Liver Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search