Pathology tests database

Sample and container requirements

Serum

Minimum volume required

1mL serum

Special requirements

None

Patient preparation

None

Sample viability

Turnaround time

14 days

Reference range

Not applicable

Clinical guidance

Investigation of genetic origin of α1-antitrypsin deficiency. Used in family screening for first degree relatives when a deficiency has been identified. Genetic variants of A1AT are characterised by their different electrophoretic mobilties i.e. M, S or Z. The M allele is the most common and is associated with normal protein levels. The Z and S alleles are the most clinically significant deficiency variants; individuals who are homozygous for the Z allele (PI*ZZ) are at the highest risk for developing severe lung or liver disease.

Notes