Test description
Where there is an A1AT deficiency, elastase activity is not regulated and it beings to break down and damage lung tissue. If the A1AT that is produced does not work properly, it accumulates in liver cells and forms abnormal proteins which being to destroy liver cells.
A1AT is produced by the Pi gene, and the amount and function will depend on the alleles inherited, with M, S and Z being the most common types.
Test information
Test name
Alpha-1 Antitrypsin
Clinical indication
- To aid in the diagnosis of the cause of early onset emphysema and/or liver dysfunction
- To establish the risk of emphysema and/or liver disease due to alpha-1 antitrypsin deficiency
- To determine the likelihood that children might inherit the risk in parents known to carry an at-risk genotype
Gene(s)
SERPINA1
Method
PCR Genotyping
Turn around time
28 days
Medicare eligibility
No
Price
$90
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions
None