Alpha 1 Antitrypsin | Genomic Diagnostics

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

Price

$90

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

None