Also known as: AAT PI
Alpha-1-antitrypsin deficiency is the most common hereditary cause of liver disease in children. In adults deficiency can lead to liver damage and chronic lung damage. Several genotypical variants of the A1AT gene occur in the general population including allelic variants of the normal gene that encode fully functional proteins through to null mutations which lead to production of little or no protein. Each allele is expressed in a co-dominant fashion.
Determination of the carrier phenotype is important as the frequency of the null allele is relatively common in the general population (1/25) - therefore the risk of a homozygous null allele child is relatively high. Carriers of the z allele are also at a higher risk of liver damage.
Specimen requirements
Serum only - 1ml
Cost
Price on application
Laboratory turnaround time
28 days
Laboratory method
Isoelectric Focusing
Reference range/units
Not applicable
Associated tests
Not applicable
Sample stability
2 weeks (older samples can be run)
Shipping and storage
UK and Ireland
Ambient temperature and first class post. Hays DX users please enquire via email below.
International
Ambient temperature if courier will deliver within 72 hours otherwise consider refrigerated transport. Freezing is not a requirement.
Ensure delivery Monday to Friday 09:00 - 17:30.
Further information and contact details
For further information, email immunologylab.enquiries@ouh.nhs.uk
