This test consists of genotyping 2 recurrent SERPINA1 variants associated with Alpha-1-antitrypsin deficiency: c.1096G>A (also known as the PI*Z allele) and c.863A>T (also known as the PI*S allele).
The 2 variants are genotyped by a TaqMan assay in duplicate (2 independent DNA extractions) from 2 independent PCR reactions (one for each variant).
This test will not detect all possible clinically relevant variants. A negative result does not rule out the possibility that the individual harbors a variant not included in the assay. DNA variants located in primer binding sites and rare genotyping errors can result in inaccurate diagnosis.
Turnaround time: 3 months
Specimens accepted:
- 2 x 4 mL blood in EDTA tubes (purple top tube) – 2 mL for newborns
- DNA: min 10 ug
- For any other sample type, contact the laboratory for testing availability
Submit your test request using our molecular genetics requisition.