Purpose of the test
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.
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.
Storage and Transport
Send by overnight first class post (unless for prenatal diagnosis, in which case please send by courier).
PDF Request Form
Phenotyping is carried out once a week. Genotyping results are available within 10 working days.
Prices available on application - please contact firstname.lastname@example.org. Discounts could be available for significant workloads.
Dr Roy Sherwood
Tel: 020 3299 3726
Dr Hagosa Abraha
Tel: 020 3299 4134
Hinds R, Hadchouel A, Shanmugham NP, Al-Hussaini A, Chambers S, Cheesman P, Mieli-Vergani G, Hadzic D. (2006) Variable degree of liver involvement in siblings with PiZZ alpha-1- antitrypsin deficiency related liver disease. J Paed Gastroenterol Nutr 43: 136-8
Francavilla R, Castellaneta SP, Hadzic N, Chambers SM, Portmann B, Tung J, Cheeseman P, Rela M, Heaton ND, Mieli-Vergani G (2000) Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol 32: 986-92
Ambrose HJ, Chambers SM, Mieli-Vergani G, Ferrie R, Newton CR, Robertson NH (1999) Molecular characterization of a new alpha-1-antitrypsin M variant allele, Mwhitsable: implications for DNA-based diagnosis. Diagn. Mol Pathol 8: 205-10