Alpha-1-antitrypsin Phenotyping and Genotyping

Alpha-1-antitrypsin (A1AT) phenotype identified by isoelectric focusing.
Clinical details: 
"Alpha-1-antitrypsin (A1AT) deficiency may manifest itself in a range of ways from liver disease in the neonatal period to lung disease in adult life depending on the mutation present (i.e. Z or S mutations). Whilst measurement of A1AT concentrations can be useful as a first line screen for deficiency, as A1AT is an acute phase protein, concentrations can approach the normal reference range in acutely ill subjects. Phenotyping, using isoelectric focusing, allows the mutation to be identified and the screening of siblings or other members of the family, who may be asymptomatic at the time.

A1AT genotype analysis is offered as an adjunct to the phenotyping service and for family studies. Homozygosity or heterozygosity for the Z and S mutations can be detected using a real-time Taqman assay. Other variants and null alleles are not detected by this method."
Sample type and Volume required: 
"Phenotyping: Serum or EDTA plasma (250 µL) : note heparin samples are NOT suitable.

Genotyping: 1 mL EDTA whole blood (smaller samples may be acceptable from infants/neonates, please ring to discuss).


Mouthwash samples are acceptable if unable to obtain a blood sample or if recently transfused. "
Turnaround time: 
Phenotyping is carried out once a week. Genotyping results are available within 10 working days.
Storage and transport: 
Send by overnight first class post (unless for prenatal diagnosis, in which case please send by courier).
Reference Biochemistry Department at King's College Hospital
020 3299 4107
King's College Hospital
Denmark Hill
London SE5 9RS
Immunochemistry Laboratory at King's College Hospital
020 3299 4130
King's College Hospital
Denmark Hill
London SE5 9RS
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 21/10/2022