ALPHA 1 Antitrypsin PCR Genotype (Anti-Trypsin)
Immunology
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]. Phenotypic & genotypic analysis is mandatory for entry into the Antitrypsin Deficiency Assessment and Programme for Treatment ( ADAPT ) register.
Indications
Genotyping is used for the detection and/or confirmation of PI*S and PI*Z alleles of Human AAT gene.
Sample Type
2mL EDTA Whole blood or extracted DNA samples. Requests from outside Sheffield: Transport at ambient temperature via Royal Mail or Courier.
Reference Range
Qualitative assay. See report for comment.This assay is UKGTN registered.
Turnaround Time
Within 4 weeks
Testing Frequency
As required
External Notes
Intepret in conjuction with AAT quantitation and phenotyping.
References
PRU Handbook of Clinical Immunochemistry. 9th Edition. 2007. [Ref 1]James K Stoller, Lout. S Aboussouan. Alpha1-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]
See Also
AAT Quantitation; AAT Phenotyping
Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.
Your contact for this test
Clare Del-Duca BSc (Hons) Biomedical Science, MSc Pathological Science
Laboratory Manager - Immunology and Protein Reference Unit
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ALPHA 1 Antitrypsin PCR Genotype (Anti-Trypsin)