Alpha-1-Antitrypsin Phenotype

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 immunology.office@nhs.net