ALPHA 1 Antitrypsin Phenotype, PI Typing (Anti-Trypsin)

Immunology

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Description

AAT deficiency is an inherited autosomal co-dominant disorder in which over 100 alleles have been identified. It has an incidence of 1 in 2000-5000 individuals. The Z and S alleles are the most frequent AAT deficiency alleles [2,3]. Allele frequencies vary between different populations. Genetic counselling should be offered to all heterozygote individuals, Z carriers and their respective partners [1,3]. Phenotyping is performed if AAT quantitation is <1.2g/L unless specifically requested. Phenotypic & genotypic analysis is mandatory for entry into the Antitrypsin Deficiency Assessment and Programme for Treatment ( ADAPT ) register.

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Indications

Used to determine the presence of common or rare deficiency alleles and familial studies.

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Sample Type

2mL Serum ( Gel 5mL Yellow tube ). Requests from outside Sheffield: Transport at ambient temperature via Royal Mail or Courier.

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Reference Range

Qualitative assay. See report for comments.

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Turnaround Time

Within 10 days

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Testing Frequency

2 - 3 times Weekly

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External Notes

Intepret in conjuction with AAT quantitation and genotyping.

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References

PRU Handbook of Clinical Immunochemistry. 9th Edition. 2007. [Ref 1] James K Stoller, Lout. S Aboussouan. Alpha-1 antitrypsin deficiency. Lancet. 2005. 365: 2225-2236. [Ref 2].M Luisetti and N Seersholm. Alpha-1 Antitrypsin deficiency.1: Epidemiology of alpha-1 antitrypsin deficiency. Thorax. 2004. 59:164-169. [Ref 3]

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See Also

AAT Quantitation; AAT Genotyping

Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.