Alpha-1 antitrypsin phenotyping

Referred to Berkshire & Surrey Pathology Services, Frimley Park Hospital NHS Foundation Trust, Portsmouth Road, Frimley, Surrey GU16 7UJ
 

Alternative names, keywords

α1AT, A1AT, alpha-1 antitrypsin phenotyping, S and Z variant

Samples required

Clotted blood (gold cap, 5 mL tube). Smaller tubes are available for paediatric samples.

Test indications

Investigation of suspected α1 antitrypsin deficiency. Samples are referred if α1 antitrypsin quantitation is less than 1.2 g/L

Reference range

Normal PI type: M.

Some variants may cause emphysema and liver disease.

Turnaround time

Referral lab quotes turnaround time of 13 days, however additional time must be allowed for packing, dispatch and delivery of sample, and return and processing of results. 

Enquiries

Biochemistry (Referrals)